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My daughter has been diagnosed with Type 1 Neurofibromatosis. She only has the spots but this week she showed us how she can "crack her eyes". She rubs her fist in her eyes and it produces a faint crunching sound. I am freaking!!! I e-mailed her doctor but haven't heard back yet. I can feel no bumps or lumps but it feels as if her eyelid has something in it like a gel or something. Could this be NF? She is also having trouble focusing on school work. She starts first grade this fall. I am wondering what to do to help her. Her Kindergarten teacher said to watch for dsylexia as she seems to want to pronounce words backward when learning her site words. Is that a disability connected with NF? View Answer |
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55 year old female with paramyotonia congenita, also with stenosis in two vertebrae in the neck. Suffering from extreme pain from the pinching of the nerves affecting the upper body. In researching this PMC disease some literature states that the use of steroids should not be used, it does not state what the affect of using steroids would be. It has been recommended that cortisone shots in the neck would possibly help and I am willing to do so; however, the orthopedic doctor is concerned what the affect of the shots would be. So far have been left untreated for the pinched nerves in the neck because of the fear of triggering a PMC attack. So the question is having cortisone shots in the neck may give incite as to how much of the current symptons are due to radiculopathy and how much is due to the PMC.
What is the worst that would happen? View Answer |
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2009-11-16 |
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i HAVE A 3 MONTH OLD THAT HAS HAS JUST A COUPLE OF CAFE AU LAIT SPOTS SINCE A COUPLE WEEKS AFTER BIRTH...SLOWLY BUT SURELY I HAVE SEEN A FEW MORE HERE AND THERE SO TECHNICALLY YES HE DOES HAVE 6 OR MORE SPOTS. dOES THAT AUTOMATICALLY MEAN HE IS NF1 POSITIVE? NO ONE IN MY FAMILY OR MY HUSBANDS FAMILY HAS IT...I HAVE NOTICED TINY TINY ONE COMING OUT AS WELL BUT THEY ARE NOT CLUSTERED TOGETHER , LIKE FRECKLES WOULD BE. THEY ARE ALSO NOT IN THE ARM PIT OR GROIN, THEY ARE ALL SCATTERED IN VARIOUS PARTS OF THE BODY, LEGS ARMS FEET ETC IS THERE A TEST THAT CAN POSITIVELY DIAGNOSE NF? PLEASE HELP ME AS I AM WORRIED SICK AND HAVE BEEN CRYING DAY AND NIGHT...HAVE THERE BEEN CASES WHERE A BABY CAN HAVE THOSE CAL SPOTS AND BE NEGATIVE FOR NF? View Answer |
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2009-11-16 |
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I am a physical therapy student from Drexel University. I am on my clinical affiliation at an outpatient pediatric clinic where I am working with a little boy who has a diagnosis of vanishing white matter disease a type of leukodystrophy.
I am having a tough time finding any information in regards to how the stress of physical activity may affect the progression of the disease. Do you by any chance know of any useful resources?
If possible I am looking for what physical therapists can do to assist in managing VWM, what occupational therapists can do, and what speech language pathologists can do.
If this disease is progressive are we helping these patients to gain function back after an episode of deterioration or are we adding to the progression? Thanks so much.
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2009-11-15 |
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Pls. help us. We need to see a doctor/specialist on neurofibromatois. We are from the Philippines. Would you know of anyone from the Philippines who would be able to help us? What type of Doctor could help us? Thank you very much. View Answer |
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2009-11-14 |
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Recently I've been submited to a DNA testing for Myotonic Dystrophy. Since there are two types of this dystrophya, it caught my attention that the result was negative for DM1, but didn't include results on DM2. Is it unlikly to have DM2 positive if you're negative on DM1? View Answer |
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2009-11-13 |
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I am a 42 year old female. My Aunt and Uncle, on my moms side both have Myotonic dystrophy. My Uncle is deceased however my Aunt is still living. My Uncle's son has also been diagnoised. My mom was tested negative. In the last 2 years I have been experiencing fatigue in my muscles. Lowers legs, knee area, trouble with elbow area, and now my neck feels like my head is to heavy to support. My Dr. has run test for arthritis, MD, and other test all have come back negative. My question is; Is there a possibility that this desease could be passed to me with out my mom having it? Or can it skip a blood line?
Thank you! View Answer |
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2009-11-03 |
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I have been diagnosed with Hyperkalemic Periodic Paralysis (HYPP). Genetic testing confirmed mutation of the SCN4A gene. Please, explain the phrase 'Two alleles positive for L1305M mutation of SCN4A gene' ? What is an allele? Is two much worse than one mutation? What does L1305M mean?
Additionally, we are exploring genetic testing for my same mutation in my two children. My daughter lives with Long QT Syndrome and has a confirmed de novo mutation (dominant negative) for the Herg gene. To confound things, my son lives with spina bifida (myelomeningocele) and does not have the Herg mutation.
Is this phenomenon of three rare diseases, seemingly unrelated especially since the Herg causes a potassium ion channel deficiency, extremely uncommon and would there be any interest in exploring my family further?
Thanks in advance View Answer |
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2009-11-01 |
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I have an Aunt & an Uncle on my Mom's side-both were afflicted with HSP @ same time eventhough Uncle is about 8yrs older. They were 55 and 62. 5yrs later both need wheelchairs & care 24/7. Symptoms vary slightly-Aunt's arm, but not my Uncle's; Uncles left leg, Aunt's right is where it started, etc. They both have high anxiety. They've not been diagnosed with anything. I don't know the specific testing, but all have come back inconclusive (Uncle said his blood went to Germany somewhere for testing). Is there anything else specific they can do, or test to ask for? They've both given up hope on recovery. They are 2 of 7 children (parents died at 76 & 94 and never had symptoms). 1 child died of cancer early so can't know if she would have had symptoms also. There are 19 grandchildren. I can't help but think it's likely that 1 or more of the 19 grandchildren or even their children may be afflicted with this later in life. What can I do to help myself & future generations? View Answer |
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2009-10-30 |
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I'm looking for some information regarding Spinal Muscular Atrophy. I am 9 weeks pregnant and was informed by my doctor that testings shows I am a postive carrier for SMA. I do not have SMA myself nor does anyone in my immediate or extended families. I was told that my husband and I are going to be refered to a genetic counselor.
I am so nervous. My initial questions are: How common is it for the mother to be a carrier? How common is it that my husband will be carrier? Is this something rare or is there a chance that we might both be carriers of this. If my husband is not a carrier, than do I have any reason to worry? If I am the only one with this gene, does that eliminate the possibility that my child could inherit this disease?
Is there any thing else I should know or anything I should ask when we meet with the counselor? Is there anything I can do to help prevent this for being passed on? Any assistance you can give me would be greatly appreciated. View Answer |
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2009-10-29 |
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I have CADASIL and before I become dimented I would like to be able to pass on some information about genetic screening to my three children - I know that with IVF when there are several successful embryos it is possible to test for this condition and only implant a healthy embryo but can't remember what this process is called.
I would like to pass this information on sooner rather than later in case my own children decide to help eradicate this condition View Answer |
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2009-10-27 |
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My granddaughter, 7 months, saw her Pediatrician yesterday. She has a cafe-au-lait spot just above her appendix. It started to appear a month ago as a pale yellow spot. His advice was wait and see what develops.
Her Mom is pregnant. I searched the Internet and read a lot about Neurofibromatosis. How likely is this one light brown spot to be Neurofibromatosis? Are there other causes for this discoloration? Abbie's father was born with cancer behind his eye, and had it removed, and has no indication of any problems now. What can you tell me about this, and should the Mom know immediately. I just told her over the phone the Doctor said watch it, and let me know if anything else occurs. I am afraid to scare her, and have it not be the case. She is already in a stressful position as it is, for other reasons. View Answer |
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2009-10-27 |
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we are former residents in Colorado. My son was diagnosed with mytonic dystrophy and was tested: his "measurement" was a basics of 1200. The MD called his condition classic myontic dystrophy. I have been unable to speak with the MD for a further explanation- very disappointing...and the letter was written in a foreign language.
Can you please confirm if this is DM1 from the MD's terminlogy "classic myotonic dystrophy" and the measurement of 1200? What is the prognosis? What can I do to help my son avoid exacerbating his condition? I am in Jerusalem for the next couple of years.
thank you View Answer |
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2009-10-26 |
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im suffering by autosomal dominant myotonia congenita
is their any remedy (allopathy/homeopathy/aurvedic/others
this disease destroy my life.
i take many yrs quinidine sulphate but it is too costly and many side effects.
pls help me to cure this disease
my other question is can i recognize as a handicapped,bcoz doctors in our state hospital have had few knowledge about these disease and did not give me the handicapped certificate View Answer |
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2009-10-23 |
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Hello,
I am from India, writing you in regarding of my younger brother .
He is 18 years old studying in 12th class. Before 2 years he have first seizures, till that time he showed no signs of illness. At that time we show him to our family doctor and he gave him medicine.
After that he have few more seizures attacks and he find it difficult to walk. Before 15 days we admin him in JJ Hospital, Mumbai and after skin biopsy examination doctor says that he have Lafora Disease.
I had never hear name of this disease, so I search about it on Internet and land of wikipedia article.We are very sad after reading that there is no treatment of this disease and patients died within 10 years.
can you please provide us more information about this disease? do you guys know expert doctor or researchers who can guide us?
Thanks & Regards View Answer |
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2009-10-20 |
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I am an adult veteran of Vietnam and the Gulf War.
In July 08, I had a large neurfibroma removed at the Mayo Clinic from the 5th cranial nerve (along with the nerve) leaving the left side of my face and nose and upper jaw paralyzed.
I have also been treated for AADD. Genetic studies concluded there is no NF1 gene.
My concern is that the tumor was caused by environmental factors and is related to the Gulf War Syndrome, that is, neurological problems.
Please send me a statement supporting this view so that I may re-apply for VA disability.
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2009-10-20 |
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I have a 84 year old mother in law that has dementia. The family was told, I believe, that she had a double V gene. Her MRI showed her brain was full of holes. From what I have read, it sounds like maybe it is Creutzfeldt-Jakob disease. The onset was gradual, but much worse in the last two years, although she is still functional. I can't seem to find any info on the double V gene, so I am wondering if we are remembering the diagnosis incorrectly. We are trying to research this in hopes of knowing more about her illness, and also the possiblity of it being passed along genetically. Thanks. View Answer |
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2009-10-20 |
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I am the elder of male twins, born 1935.
Of 10 uncles/aunts, 2 aunts one uncle had Alzheimers, another aunt apparently started Alz. but died before full development. Disease length, approx 15 years, deaths around 90's. I have 6 living cousins, older and younger. None show any signs of cognitive decrease.
My twin died age 72, after 5 yrs, of dementia, diagnosis atypical Lewy body, (Addenbrookes, Cambridge UK, Memory Research Dept.) Definitely atypical of familials).He worked with pesticides for 3 years when 35 yrs.old.
I presently perform all tasks OK, house repairs, driving, considerable writing, teach other retirees computer use, BMI - Height 165 cms, weight 61 kilo ....
Wife claims I am candidate for Alz! (Whose wife doesn't?)
Questions:
1. What DIY home testing at say 3-6 month intervals should I perform to trace future possible Alz?
2. What professional should I go to if I decide to be under medical supervision?
Thank-you View Answer |
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2009-10-19 |
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I have Tompsens Disease. Current age is 68 years. I have been experiencing a tightening of my hamstring muscles to the point where it is influencing my life. Can this be Thomsens related? I have arthritis in my back and hips and degenerative discs. View Answer |
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2009-10-12 |
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My daughter had a terrible reaction due to the Rubella vacine (MMR) when she was 4, she is now 8. At 4 she suffered from JRA for 7 and 1/2 weeks, she was pretty much paralyzed in her hands and feet. She seemed fine after the 7 and 1/2 weeks. Now my daughter is suffering from Epilespsy. She had her first seizure 7/04/2009. To date she has had 5 seizures. Her first seizure lasted about 30 seconds to a minute and her most recent went on for six minutes. Since she has had strep throat and two ear infections. In addition she has gained about 40 pounds and now weighs 88 pounds. Could this be related to the MMR vaccine? This website allowed me to obtain answers years ago and I am hoping to get some guidance now. Thank you so much for any assistance that you can give me. I am also concerned with giving her any additional vaccines, like the flu shot or her second verasella. View Answer |
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2009-10-05 |
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I am wondering if huntingtons disease can be relayed from a mother who has epilepsy to the child. I have been having some of the symptoms of huntingtons but have never been tested for it as of yet and i want to know if it is possible that my mothers condition would cause my geans to bring on huntingtons. Thanks.
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2009-10-01 |
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Hi
My husband's family has a history of DRPLA as his mother, brother and one aunt have died from it.
His other aunt (51), her child (19) and him (36) have not shown any signs of the disease as yet. None of them have had a DNA test and do not plan to do so.
We are planning to have a child but have concerns that it may have DRPLA. If my husband does not have it is it possible that our child could still have it, or does the parent have to have it for it to be passed on?
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2009-09-30 |
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My 19 month old boy was diagnosed with polymicrogyria at the age of eight months. We did not notice any strange abnormality up until a MRI scan but noticed that he did not use his right hand side of the body as much as he favored the left side. After a MRI Scan we were informed of the defect. He has not had any seizures as yet but battles to walk correctly and uses is right hand very little. We are currently giving him therapy to stimulate the right hand side of the body, my question is what more can we do to assist him. I feel that the therapy is helping but I would like to know more about this condition and other therapy methods.My wife has just had another child Shon? a girl what are the chances that she will also have this condition?
Please could you assist me or refer me to another person who would be able to. Regards.
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2009-09-29 |
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I had a small object removed from my chest and was told it is nevrosibroma. It came back beneigned. I am curious to how I got this and it is very serious and need followup? View Answer |
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2009-09-28 |
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To whom it may concern
I am writing this e mail for a friend of mine who suffers from Central core disease. I am a pharmacist myself so I already have a background on this disease. She is 22 years old and is being treated with Amino Acids (from Cyprus), which I can say visibly and psychologically have improved her so much. She doues gym and is so positive about life. She travels to UK since in Malta we don't have anyone specialised in this disease.
Last time, I've been to her house and she mentioned to me Stem cells. She read about a woman with a spine injury that made use of stem cells. So I would like to ask you some information, contacts, possibilities, etc about any treatments (including stem cells) which can improve her condition. Her dream would be to walk. Even though she knows it's very difficult, I would appreciate if you contact me. I want to learn more about these treatments available. View Answer |
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2009-09-28 |
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I am a 43 year old woman with neurfibromatosis type 1 . Recently I was diagnosed with bilateral breast cancer, with each breast having a different type of cancer. During the masectomy I had a lot of trouble with bleeding and "oozing". Both surgeons believe that I have some sort of blood disorder. Are there any blood disorders linked to NF? View Answer |
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2009-09-26 |
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Hello:
I am interested in myotonia causing mutations on the CLCN1 gene. Would you happen to know of any current publications with a list of all known CLCN1 myotonia causing mutations?
Also, is there a resource which correlates these mutations with known clinical and electrophysical manifestations? View Answer |
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2009-09-25 |
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I am 99% my son has myostatin-related muscle hypertrophy. I only leave the 1% in case there is something else that presents the same exact way.
My son was always extraordinarily muscular, incredibly strong and coordinated far beyond his years. My concern now, at age 11, he expends far more energy and doesn't seem to be taking in enough calories. Should I supplement his diet with protein shakes or something?
Also, is there anything I need to be concerned about down the road medically? View Answer |
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2009-09-24 |
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Some members and myself in my family have a strong case of CMT, mine being slight when others in my family are crippled. CMT was inherited by my mother's side of the family (Montague).
My question is this; one of my brother's has just recently been diagnosed with Lou Gherrigs Didease (ALS) even though his 1st opinion(family doctor) and 2nd opinion(University of WA health and research) have come to that conclusion, I still can't understand why CMT was not at the forefront for ruling out the possibility it's not ALS and that it really is CMT. His symptoms have matched the many case studies I have read. I am wondering if he should go for a 3rd opinion with someone who has been able to study CMT. In order to get a clear diagnosis, wouldn't that be to have a spinal tap? I don't think he has been tested using that method. Please let me know what your opinion is. View Answer |
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2009-09-23 |
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Dear Sir,
My son is of 8 years old . He had adrenoleucodystrophy suggest me resent therapy used for this disease
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2009-09-22 |
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can neurofibromatosis effect your hearing View Answer |
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2009-09-22 |
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My biological, 15 year old, daughter was diagnosed with Pelizaeus-Merzbach Disease through a blood test. It read "abnormal FISH analysis showing a hybridization pattern consistent w/ a duplication of the PLP gene on on X chromosome". It also said that greater than 70% of interphase cells is consitent w/ being a carrier for P-M syndrome. Our other two sons do not demonstrate any physical impairments & my blood test for the FISH was "no evidence of duplication". She has bilateral foot drop, which has progressed since 2005. She goes to PT to strengthen her trunk muscles. She's been fitted for a peroneal stimulator to help with ambulation. She doesn't exhibit any respiratory problems. She is not mentally retarded, but she is a slow learner & school is difficult for her. With all the literature I've read, will she continue to progressively get worse? Will her life span be shortened? And since I do not have the gene, can she pass it on to her children? thank you. View Answer |
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2009-09-21 |
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My uncle's autopsy indicates NF2. He had a right acoustic neuroma removed as a child and again as an adult. I am now 32, and last year, had a right acoustic neuroma removed. I had an NF2 test at UAB medical genomics lab, but it was negative. What is the likelihood that I have a type of NF2 that cannot be tested. Is that probable, or is this random? (My grandma and other uncle had/have fibromas, but no official diagnosis) View Answer |
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2009-09-21 |
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i have visual disterbences,balance problem,numness in right side of the face.it started on six month before .,what type it is?what is the treatment?in my family there is no history of this type of diseases.please replay me . View Answer |
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2009-09-18 |
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Is the Synesthesia gene related to the X chromosome? It makes sense that is would be, considering Synesthesia can only be passed from mother to son, mother to daughter, and father to daughter. It seems like too much of a similarity to be a coincidence. I can explain this theory further if you need me to. Thank you! View Answer |
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2009-09-16 |
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Patient aged 1month at moment. Born prematurely and from birth had seizures and breathing difficulties. Lactic acid levels were high and the child was diagnosed with Pyridoxal'-5-phosphate deficiency (the active form of VB6). The child has since been administered the P-5-P and has stopped having seizures. Lactic acid levels are normal. At first, doctors explained that due to high lactate levels the child may have brain damage (were 80% sure), however tests were inconclusive. The child seems to be fine, however having read varous articles I have found that children with this condition have had continious seizures and learning difficulties in later stages of life (i.e. difficulty to speak etc). Are there any others similar cases and could it be that this child could establish a normal life with a P-5-P deficiency. View Answer |
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2009-09-15 |
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I've suffered from muscle cramping since 10 yrs. old. So severe, my hands, arms, legs, and foot would get stuck. I can't rotate my foot. They get stuck. The back of my legs cramped so bad that I couldn't walk for about 10 min. I could make myself cramp. Doctors are amazed, but can't figure it out. The more I use my muscles, the more they seem to cramp. PLEASE HELP! I'm now 40 yrs. old. I wonder if my organs are affected. Thank you View Answer |
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2009-09-13 |
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Hi, wondering what is the possibility of not showing symptoms of Hypokalemic Periodic Paralysis until my 41st year? My grandfather died from it, my mother had periodic episodes and my brother is currently affected by it. None of my 4 sisters seem to exhibit symptoms. Is this gene isolated so that I'm able to have a test to see if I carry, (and therefore can pass on), this disease? View Answer |
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2009-09-07 |
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My son 18 was diagnosed with Multiminicore myopathy a year ago. He has always had some weakness with his speech and facial muscles and as a child had some difficulty with running. As he got older he seemed to have out grown the walking and running problem and seemed to have the strength of a normal child. Rode bike, played basketball, and skated inline. When he was 16 he started complaingin of falling alot and not being able to run any more. Went to neurologist and had biopsy and various test and determined this problem. He also was told to be highly postitive for MH. His neurologist felt that he had R1N1 mutation so we agreed to test and the results came back negative. He now can only walk short distances and uses a wheelchair and has weakness of breath and breathing issues moderate not on venilator at this point. Is it possible for him to have another mutation type that has not been identified? View Answer |
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2009-09-06 |
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I have 2 yrs 3 month old daughter.Recently we have observed that she has developed brown spots on underarms.She is also having White spot on the neck.One of the doctor diagnosed it Neuro fibromatitis and the white spot as Ash leaf.what r these.r they dangerous.is the diagnose correct.we r worried as i read on internet about all these and they are horrible disorders.help us what to do.Till now she is absoulutely normal with proper growth,height,intelligence.is she going to have problems later on.now where i should go.what treatment should i do. View Answer |
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2009-09-05 |
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My 5 year old daughter suffers from chronic tingling in her fingernails, so much so that it affects her holding a pencil correctly or being able to fold her hands in prayer. This has been going on for some time. She says it first began in her fingernails and spread to her toe nails, but they are not as affected. She says that it helps if her nails are moist. She is constantly moving her thumbs across her fingertips. Also the first time she felt tingling in her teeth was about 8 months ago when she touched her teeth on the velt of the couch and has said that she has felt tingling under her eye area before but I think she has to use her tongue though to tingle her teeth. Do you have any ideas of what this may be or suggestions of what I should look into? Any imput would be GREATLY appreciated. I have had a under-the-nail scraping & an MRI done on her brain and spine, but seems off not to do her arms & hands. View Answer |
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2009-09-02 |
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My baby boy has one cafe au lait spot, light brown spot on his upper arm. I read that some children with these spots may have a tendency to have neurofibromatosis or even the rare McCune-Albright syndrome. I like to know the chance/ percentage of children having these cafe-au-laut spot having neurofibromatosis or McCune-Albright syndrome. Thank you for your reply and assistance.
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2009-09-02 |
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I am a mother who has CMT and both my son's also have CMT. I need information on what my child needs to do in his PE classes. He has this worst than I do. He came home from school yesterday saying that the class was hard and this morning he woke up crying with pain. Please help me figure this out. View Answer |
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2009-08-28 |
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My mother's mom had Pelizaeus-Merzbacher Syndrome, my mother is not a carrier, am I still at risk of becoming a carrier?? View Answer |
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2009-08-27 |
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Hi,
I have a question regarding Neurofibromatosis - NF1. I have a 3 year old son who was born with one cafe au lait spot on his lower back. It looks as though there is now another spot on his upper back as well as a larger one on his upper right deltoid. In addition, one of his legs is ever-so slightly larger than the other (specifically the lower leg...calf, ankle, foot). His daycare reported that he occasionally limps, however, we have not particularly noticed a limp and he does not complain of any type of leg pain. What exactly are the skeletal abnormalities associated with NF1 and could what I have described be considered manifestations of this condition? Of note, he has no other medical problems and appears to have develeloped normally both physically and mentally. Thanks in advance for your help. View Answer |
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2009-08-26 |
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To answer my last response from you, we have seen 3 genetic doctors so we have gone that route what I am asking is and yes I am now getting angry. one of the genetic Doctors mentioned there was a blood test that could determine whether my child had this condition or not, so why doesnt anyone of them offer to do this test
Is there a blood test or a DNA test that can be done to determine if my son has NF1??
I find it a little hard to believe that birthmarks are what the doctors are looking at to determine the condition. I have them as so does everyone in my family and my husbands also. the question is above Is there a test??
I am done with doctors that want to use my son as their first case of this. We are parents that want answers now. If it were your child woudn't you want to know and not be told to deal with it. Think about that before answering, because we are human and when it comes to our kids we what the best for them always. View Answer |
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2009-08-26 |
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My youngest was diagnoesd with this condition in 2000 when he was about7 months old. We were told that a blood type test could tell us whether he has this condition or not.he has no signs of this condition other then the cafemarks about 30. vision test done NOTHING came of it. Why is a blood DNA test not being done? I feel that my son is being used as a case study He is not a case study,I feel as no one cares.
My son now 9 bright,very smart. In both families there is what is now referred to as ADHD&ADD over active people&so what we just deal with it. big heads run in my husbands family though our sons is normal in size. if there is some test that can close this case for us then why are we being told NO, deal with it. last doctor said " it's just like cancer you just have2deal with it" no it is not like cancer if it were then we would know what it was&try&fix it or await death. This is not at all like that. View Answer |
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2009-08-23 |
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My spouse and child have NF2. What is the life expectancy of someone with this condition? View Answer |
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2009-08-21 |
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i was 18 when my son was born and when i was told about his syndrome i took it in my stride, not really believing it could be that bad and always believing we would be ok, i was worrying who would look after my child when i was gone thinking that was the way it was going to be. my son is now 10 years old, he is severly disabled and cannot communicate with anyone. i was looking for information on the net and opened a site which said people with m.a.s.a syndrome usually have a life span of 20 years, is this true. View Answer |
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2009-08-20 |
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I have had episodes of hypokhalemic periodic paralysis since my school days and continue to experience these into my 60's.I have been taking Diamox since i was 38.
This had the effect of preventing these attacks for 3 years before they returned to me at the same severity ie 1 or 2 attacks per week which i continue to have today in 2009.
In a FAQ section it was suggested that a similar drug called Daranide (diclorphenamide ) which is far more potent then Diamox and often works on patients who respond poorly to Diamox , or on patients who have been on Diamox for many years and have become resistant to its effects, which is what has happened in my case.
Should i see my local doctor and enquire from him whether or not i should trial this drug for a short period to see if it will help me at all.
Many thanks for you time.
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2009-08-19 |
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I have an 18 year old nephew who had been diagnosed with polymicrogyria. It is a fairly mild form. My sister has told me that she was told that my married daughter should be screened for a gene that may cause this. No one else in our immediate family has had a child with PMG, my husband's family has not, and my daughter's husband's family has not had any showings of this. When I looked this up today, it mentioned gene GPR56 as a cause, but also some other non-genetic causes during gestation
My question-
Would my daughter need genetic testing before she becomes pregnant? I do not want to alarm her in anyway if it is not necessary. She worries and takes things very seriously. View Answer |
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2009-08-18 |
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Is it possible to prevent growth of benign tumor in abdomen and is it possible to perform a surgery on it?
DG:TU ABDOMINIS R 19
SCLEROSIS TUBEROSA Q 85.1 right side of abdomen dimension 19 x 14 x 10cm View Answer |
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2009-08-18 |
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Hi,
I am currently being tested for Huntingtons DIsease, but thus far have nobody in my family WITH this disease OR any symptoms. I was told that this is a genetic disorder so how could i have it?? View Answer |
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2009-08-17 |
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My daughter is almost 7 years old. 2 years ago, she developed 2 cafe au lait spots on her back during the summer. During her regular checkup in October following that summer, I asked the pediatrician about it. We talked about Neurofibromatosis and he said they generally look for 6 of them before it is an issue. I thought he said these usually appear by a certain age but can't remember what age it was. She has since developed at least 2 more of these spots. I don't think she has any other symptoms except one freckle near her groin on her upper thigh. Do children with the disease usually develop multiple freckles in these areas or is developing just one of them an indicator? She will be 7 soon and I am wondering how likely it is that she would develop the disease. In other words, with the current symptoms she has is there a certain age at which the doctor is likely to say she is no longer in danger of developing the disease? No one on either side of our family has ever had this disease. View Answer |
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2009-08-17 |
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My Cousin was diagnosed with EA type 2 about three years ago. My question is does this disease kill you? Like does she have a time limit to her life now, or can you live forever with it and just coupe with the symptoms? Thanks View Answer |
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2009-08-14 |
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I've had essential tremor disorder for years. I'm 30 years old. It has mostly affected my hands and arms, sometimes head. And I have noticed over the past few years that it seems worse than it used to be. But a couple nights ago (while standing), my leg & foot (the one my weight was not most on) was shaking. And it was very noticeable to others. And it continued to feel 'shaky' most of the night. My legs have never really shaken before. Could this mean my tremor is spreading and/or progressing?
Also, is it normal for 'cold' to be a factor in making my tremors considerably worse? This also seems to be a big problem for me.
Please reply. I've asked on 3 different websites already & have gotten no answer.
Thanks. View Answer |
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2009-08-10 |
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My 76 yr. Mother was diag.w/ early alz. becomes fixated on a topic & won't let it go, to the point of agitaion. Other times she seems normal. She has been on a patch
Exelon seven weeks. I have read tons of info, nothing but nothing related to this type of behavior.
Thank you so much... View Answer |
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2009-08-05 |
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Where can I get tested for Episodic Ataxia type 1 2 and 6. How much does it cost without insurance?
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2009-08-02 |
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My Family has been typed for SCA1. I however have exhibited symptoms of Episodic Ataxia 1 and 2. Since I did not test positive for SCA1 my geneticists says the likelihood of me having EA 1 or 2 is next to nil. Is that true? I have had symptoms for many years. Off and on. The stress level at my postal job was so bad the symptoms came back and with a vengeance now. View Answer |
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2009-08-01 |
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My father-in-law has gotten a disease called ADEM, Acute Disseminated Encephalomyelitis. He has gotten this twice. The first time he was able to recover completly in about a week, the second time has left him first in a coma and now in a PVS state for the last year and a half. I am wondering if there has been any indications that this could be genetic because I have two children and I was wondering if because there grandfather has the disease does this increase their chance for getting it? And if so is there anything that I can do about it? View Answer |
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2009-07-31 |
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I have been told by a dermatologist that i have Neurofibromatosis type-1. Now that i am planning to conceive in 3-4 months, can you please tell me whether is it possible to avoid neurofibromatosis being transmitted to the baby while pregnancy? Is there any way? and if there is a way, then will that have any side effects?
I request you to please elaborate as much as possible because it will be a great help for us. We are even ready for Genetic counsilling if you think that helps prevent transmission of this disease to the next generation.
Thanks and Regards. View Answer |
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2009-07-30 |
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I am 72 and have had a genetic tremor in my hands since I was 60. It has made eating messy. A friend has suggested L-Tyrosine. I bought it in 500 mg capsules that also contains B-6. The brand is Country Life by GMP, Can you tell me if this could be helpful in bringing greater control to me over my hands (both shake, but the right hand shakes more). If you believe L-Tyrosine might help me, would you tell me what dosage to take daily and when I should take it? Also suggest any other things that might bring me more control.
View Answer |
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2009-07-24 |
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Hello,
My father has been suffering from Hypokalmia PP for last 40 years,and my brother aslo suffering from Hpp for last 14 years..I dont have symtoms till now.My grandfather and grand mother had nt inffected with this decease.
Due to poor medical facilities here we dont know the name of decease till yesterday.Yesterday I searched the web and found the name,
My doubt is "Is there any chance of passing this decease to my children ?" offcource I am still batchelor...please give me reply ,so that I will decide wether I need to marry or not... thank u View Answer |
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2009-07-23 |
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Hello,
can i pass NF2 to my offspring if I haven't
inherited it from my parents?Both of my parents
don't have NF2 View Answer |
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2009-07-23 |
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CAN YOU TELL ME HOW LONG IT TAKES TO RUN THE TEST AND GET THE RESULTS FOR CANAVAN ? THEY ARE TELLING ME THE LAB THEY SUGGEST I GO TO WILL TAKE 2 WEEKS BUT IF THE TEST RESULTS WILL BE SHORTER, I WILL SEARCH FOR A DIFFERENT LAB View Answer |
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2009-07-20 |
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My daughter is 3 and can do a lot of the same things as Liam. She is strong and has, it looks like not very much body fat and you can see her muscles in her legs and her calfs. She also can do pull ups and can hold herself up when holding on to my hands. Should she be tested for myostatin-related muscle hypertrophy? She probably doesn't have this since it is so rare but I was watching the show on Liam and said to myself she can do a lot of the things he can do so I was just wondering. View Answer |
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2009-07-20 |
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I am 56 and I am seeing- over some years- symptoms of what appears to be Alzheimers in myself. I do not mean only memory lapses- but putting things in odd places, short term memory loss - totally-, peculiar spelling of familiar words - phonetically.
I am single and self supporting. I am very intersted in finding out if I have genetic disposition to get this disease. I have worked with medical professionals- and know the other ailments it could be- it is not.
In other words- being pretty informed for a lay person, very interested in the real information- and not interested in taking hours of expensive paper and pencil tests- would like to find out how to get these genetic tests directly. I do not have the time to take from work for 2 days of tests for what I am alreadying seeing over time in myself as changes which seem to unfortunately match what I have read about the symptoms.
Can you tell me how I can do this with reliable labs?
Thank you. View Answer |
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2009-07-19 |
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Hello,
I have a sister with some form of myotonia. Apparently, she had symptoms since birth (she was unable to nurse properly), although she is fully functional. She now has muscle weakness and other symptoms. My mom has these same muscle weakness symptoms that started when she was in her 40's, although, when they did the needle test for myotonia on her, it was negative. My question is, what is the likelihood that I have this gene. We are trying to have a baby, and I have heard about "anticipation". What can I do to make sure my baby won't suffer from a form of this? Do you think my unborn child would be at risk. I am 25 and don't think I have any had any symptoms. Thank you.
View Answer |
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2009-07-18 |
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I am a 39 year old woman who was diagnosed with hemiplegic migraine some years ago. Both my parents are deceased, though I know my mother had migraines from childhood, so I don't know if it is familial hemiplegic migraine. Would that make a difference in treatment? I currently use cafergot & percocet to try and manage my migraines. View Answer |
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2009-07-18 |
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I am a 35 year old male with NF1. Up until recently I have only had a couple of fibromas on my skin, however, within the last year I have noticed several new ones developing all over my body and the ones I have had for a long time are growing (slowly). I am wondering what services are avail for adults with NF at Emory and or with other providers in the Atlanta area. I have had a hard time finding providers that are familiar with the disease and are avail to work with adults vs children. View Answer |
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2009-07-17 |
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My wife is pregnant and I have Becker Muscular Dystrophy
Is it possible our child to have Muscular Dystrophy?
Thank you
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2009-07-15 |
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My family has some sort of distal myopathy in my family. It is unclear exactly what it is, or even if it's muscular (vs. neural), but it is definitely hereditary. Many people on my Maternal Grandfather's family has it, or something unusual that's related to it - I'm not sure if it's autosomal or x-linked, because from my limited view it could be either.
I have read about Tibial Muscular Dystrophy, which sounds similar (e.g. adult onset, starts with/focuses on the tibialis anterior, etc.), and I have read that it is caused by a mutation in the TTN gene.
Two questions:
1. Is it possible to do a genetic test to see if I have a mutation on the TTN gene?
2. Are there other genes that I could test that may give insight into exactly what this disease is?
I am trying to learn as much as possible re: what exactly we have to then understand if there are alternative treatments, in particular nutritional treatments, that can stave off or even "cure" this disease. View Answer |
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2009-07-10 |
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50 year old female 50 & was normal until the late 90s when I began to experience severe pain,fatigue &elevated CPKs at 1000-1500.After medical testing & 2 muscle biopsies I was sent to Montreal, for exam by Dr. Karpati Neurologist who did testing on frozen muscle from one of my biopisies.His report was I have MD, limb girdle type 2A Calpain 3 deficiency.Genetic blood tests agreed 99.9% as I did not have 2 gene mutations.A neurologist in SK, wants to examine possibility of carnitine palmitoyltransfer 2 deficiency.Extreme pain & fatigue after mild exertion with CPKs around 1500.When we moved my CPKs went to 3300, was in severe pain &very fatigued & in bed for 5 days.I can't walk long distances or be on my feet for long time.Question is, would Dr. Karpatis test be conclusive to MD or should I look further the possiblity that I have CPT2 deficiency? Can this be studied from blood test or a muscle biopsy? View Answer |
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2009-07-03 |
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My brother had been diagnosed with peripheral neuropathy at the age of 53, has an HDL on record of 5, had his tonsils removed before the age of 3 and is experiencing memory issues. Is it possible he may have something similar to Tangier's disease (no record of any other similar problems in the family). No family history of high blood pressure, diabetes (both parents still alive and very healthy in their 80's, paternal grandfather lived into his 90's, both maternal grandparents deceased in thier 40's but one was ETOH related and the other ruptured appendicitis/peritoneal infection) View Answer |
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2009-07-03 |
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I was woundering if anyone with Charcot-Marie-Tooth disease has ever had their diaphrams effected by the disease, a weak diaphram and muscles around the base of the lungs? Has this ever been reported in the disease? View Answer |
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2009-07-01 |
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Today, I was told I have myotonic dystrophy type 2 (DM2, formerly known as PROMM), diagnosed via genetic testing.
I also have been deaf since birth, due to unknown causes. My hearing loss has been pretty much stable all my life, except for some minor degradation in the higher pitch range in the recent decade or so (I am now 39). I was tested years ago for the Connection 26 gene for deafness as part of a genetic study, but that was negative. No other known living relative is deaf, just me on both sides of my family. I'm not sure if anyone else has experienced symptoms of DM2 (but no one else diagnosed).
Is there a possibility of a causal relationship between DM2 and my deafness? Or might it be sheer coincidence?
I also have been diagnosed with attention deficit disorder and with alopecia. One cousin has alopecia. No relative with ADHD that I know of. Possible causal link for these?
Thanks. View Answer |
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2009-07-01 |
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My 26yo white female child was just told that she has 4 tumors in her posterior chest.These are not in her lungs but are on nerves with no foraminal invasion.She has been told these are either Schwannomas or Neurofibromas and that she has Neurofibromatosis Type 2.Her father had a neurofibroma removed from his buttocks.There is no other family hx that we know of.She is extremely concerned that she will inflict this disease onto the children she plans to have in the near future and I don't know what to say.Can you explain the genetic component of this disease to me.She fears having a child with more extensive disease than she has. View Answer |
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2009-06-30 |
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Hello:
Can you please tell me if hypokalemic periodic paralysis has been known to occur with the myotonic dystrophies or any non-myotonia congenita, non-paramyotonia myotonic myopathies?
View Answer |
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2009-06-29 |
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Hi,
I was diagnosed with Myotonia Congenita about 15 yrs ago. I now have Atrial Fibrilation and it seems to me the drugs they are treating my afib with are also causing me general weakness in my skeletal muscles. I was previously taking Toprol lx, Amioderone, and am currently taking Betapace and Cardizem. I am a 50 yr old obese male.
Could these medications be exaserbating my Myotonia Congenita?
View Answer |
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2009-06-28 |
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Hi I have NF1 and have a 10 year old boy.
I am always checking him for the caf? au lait spots, he only has two large ones (larger than a quarter) and three or four small ones about a penney's size.
He does not have the freckilng on the underarms or groin.
What are the odds that he might inherit NF?
I must add he is an honor student, so no learning disabilities either.
One other question if I may, where can I find recent information about advances for a cure or treatment?
Thanks in advance for your reply. View Answer |
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2009-06-22 |
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I have a CLCN1 mutation (which has not previously been seen),first diag nosed as Myotonia Congentia. Walter Reed diagnosed me with Stiff Person Syndrome, UAB said I have a "Conversion Disorder" and Fibromyalgia. Even the EMG's are not interrupted the same way by each neurologist. I have been referred to the Cleveland Clinic. They too believe part of the problem is Conversion disorder. I have all but lost my ability to walk without falling, the muscle spasms are frequent and painful, and the joint pain is great. I have sleep apena, I am sensitive to noise, light, touch (extremely) and during the spasms my speech becomes slurred. I have Osteo Arthritis in most joints, with the left hip, and back having the greatest inflamation. Bottomline: I am at a loss for what to do. The GAD anti-body test done in 2004 came back negative, so now they are re-testing me. I am retired Army and a Gulf War and Balkans Vet. Any thoughts or insight would be greatly appreciated. View Answer |
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2009-06-21 |
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I had a brother whom we think had
L1 syndrome -long time ago- . My sister's daughter has a son with this condition. I have 2 sons --should they be tested for being carriers?--I am unsure about myself. According to my research there should be no problem, but all of us want to error on the side of caution.. View Answer |
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2009-06-17 |
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I had trouble with my legs before I the age of 18.I have been told at the age of 50 that I have small fiber Peripheral neuropathy and foot drop.They can not tell me what is causing it .Some days at the end of the day I can hardly walk.In my mothers family, this is what I know about family history but NO ONE seems to want to here what I am saying.My Great grandmother had trouble walking and had to wear leg braces.My Grandmother had to wear braces on both of her legs ,later in life she was in a wheelchair .My oldest aunt had trouble with her hips and legs from the age of 7 or 8 .She used forearm crutches till she had even more problems and ended up in a electric wheelchairs . My Mother and her twin sister had trouble walking when they were in their 20's. My mom's younger sister has trouble walking .I have had trouble , I have two sisters that always complain that their legs hurt . I also have a cousin that at the age of 45 can not make it to the end of her driveway. View Answer |
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2009-06-17 |
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My fiance's family has Charcot Marie tooth. His mother is can not walk very well and her hands are curled. She is also hard of hearing. She had 5 children. 2 of them have CMT as well. (2 of them died of unrelated causes without showing signs)
The oldest son is 37. He begain showing symptoms when he was 10-12. His legs are bowed and hands are beginning to curl but his disabilities are not as severe as his mothers or brother. He is married and has 3 children. Teens 16 and 18 show no signs of CMT. The youngest 7 is being tested and is beginning to show foot problems.
The youngest son is 29 and showed symptoms as a 6year old. He has severe - back fixed, arms and legs.
My fiance is 36 and the middle son. He has not shown any signs. My fiance believes he does not carry the gene. We are in the process of planning for children. How do we make sure he doesn't carry it? Any advice would be extremely helpful to me. View Answer |
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2009-06-17 |
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Will a child with type II muscular Spinal Dystrophy ever walk in time.
View Answer |
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2009-06-16 |
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About 18 months ago, my 64 year old mother was diagnosed with Cortical Basal Degeneration (CBD). Last December, my father volunteered her for a research study at the University of Pennsylvania. As part of the study, the researchers took a blood sample form her in order to test for a gene mutation associated with CBD. The disease runs in her family, and the researchers told us that the mutation is dominant, meaning that if one parent has it, each child has a 50% chance of inheriting it. We have not yet received any results from the test. I have no idea when we will get the results, but I need to know if I am a carrier soon, because I plan to get married within the next year. My fiance and I both want the information so that we can make an informed decision about having children. Is there a clinical test for CBD available at this time? Please let me know. Thank you. View Answer |
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2009-06-12 |
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My 3 yr old son has been diagnosed with neurodevelopmental delay, sensory-neuro hearing loss, hyperactivity, insomnia, insensitivity to pain. Last summer he had an MRI that showed t-2 signal prolongation. A metabolic panel of test were then ordered by a neurologist and all came back normal except that there was an elevation in his very long chain fatty acids. The test was repeated and sent to the Kennedy Krieger Institute where it came back with a slight elevation but not enough to diagnose adrenoleukodystrophy. Things have not improved for our son and recently we brought him in because he had very strong ammonia smelling skin and urine. A liver panel was taken and his cholesterol and triglycerides were elevated so they want to repeat the test after he is fasting. I am wondering if it would be advisable to ask the genetic specialist we had seen (she ran a couple of genetic test for other rare disorders that came back normal) to order a genetic test for adrenoleukodystrophy? View Answer |
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2009-06-11 |
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My 13 yo dtr has been c/o ha and dizziness for years. She c/o having 3 separate spells accompanied with dizziness where "she knew something was going on but could not comprehend what was happening." At 11/08 we were told the MRI showed she had "atrophy of the cerebellum and vermis". She also had some epileptic activity on an EEG. She had an MRI when she was 8 yo that showed atrophy. According to the neurologist and radiologist they feel it has progressed in the 4 yr period. She does not appear to have significant deficits in her physical abilities at this time. In fact, she is very active in sports. She has seen a Neurologist who sent us to a Geneticist. We just received information that the genetic testing for "ataxias" was negative. She has also been diagnosed with "vasovagal syncope" several weeks ago. They have her on midodrine. She is still experiencing dizziness. Does genetic testing for Ataxias usually include episodic ataxia genes? View Answer |
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2009-06-08 |
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In addition to Factor 5 with protein C and S mutation, I am also suffering from Syringomyelia. It appears that I will have to have surgery since the syrinx is causing more and more problems. I can not find a physicial (Neurosurgeon) who knows how to treat me. So I am left alone, scared, and overwhelmed. I am a disabled widow with no children. So I have no close support group being my late husband was career US Navy. We transferred very often. Even my birth family treats me like a fake. They mock the use of a pain management doctor. I am beyond distraught. I can not even find help for anything. I don't eat right, sleep right and the chronic pain has advanced to acute.
What is your recommendation for a patient with this condition facing surgery? Although I doubt that I will live long enough to worry about it. Don't mistake that comment as suicidial. It isn't. I am just out of hope. And having a very dark night of the soul tonight. View Answer |
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2009-06-06 |
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MRI has revealed Periventricular Nodular Heterotopia in my 6 year old son. Six months before this discovery, we learned that he had deletion 45-47 on the dystrophin gene, with the diagnosis of Becker's MD. I was tested for this deletion (MOM), and I don't have it. Since I don't have the MD deletion, should I bother testing myself for the PNH mutations? What went so wrong with my pregnancy to cause all this? Did he most likely get a bad egg? Are these mutations (other than they are both X-linked) in any way related, or a coincidence? Thanks for the feedback. View Answer |
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2009-06-04 |
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I am 38 yrs old. My paternal uncle had NF1 and died in his 30's. I have been experiencing wheezing, diarrhea and night sweats for the last month or so and my GP is running a series of tests. I also have bilateral congenital dislocated hips and mild scoliosis. My father also has mild scoliosis, and problems with his eyes, bowels (IBS) and chest. His has never been tested to see if he is a carrier of NF1, but I am wondering if I could be at risk of NF1 through my uncle, and could my father be a carrier without any major signs and symptoms? I have discovered this link as I am awaiting results of a 5HIAA 24hr urine test and discovered there could be a genetic link to NF1. View Answer |
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2009-05-29 |
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Thanks for your response in advance. At 68 I developed reaction arthritis and tested HLAB27 positive. Researched my family names and found a link to a Jewish background six generations back. Now at 72 it appears I have either Facioscapulohumeral MD or a combine with Oculopharyngeal MD. Research shows a high rate of both in certain Jewish communities. Are the two related by the varient gene? Droopy eyes, shoulder ligament detachment, numbness in feet, shoulder and face. I'm active and work as a surveyor every day. View Answer |
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2009-05-29 |
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Dear Doctors,
my 67 years old mother is affected by Huntington Desease. In the last month she passed a terrible period with suicide tentative (in the first days).
Now, after beginning a pharmaceutical treatment, she's better.
The treatment is 2 mg of aloperidol (Haldol or Serenase) for three times a day and Trazodone g. 2,5 100 ml (in Italy called Trittico) 10 drops twice a day.
The teraphy started 3 weeks ago and with this "quantity" only yesterday.
Do you think the treatment can be correct? Could you suggest something else?
I specify that my mother does not accept to be ill, so I give her medicine in "secret" (in the coffee). I speak often with a neurologist and also with a psychiatrist
Thanks in advance.
View Answer |
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2009-05-28 |
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I have Myotonic dystrophy, I haven't had much problems with it until lately. My wuestion is my hands right at the thumd is very sore to push on and my wrist are sore. My grip is still fairly good. I have not injuried either hand. They ache all the time, Is this part of the myotonic dystrophy or could this be arthritis? View Answer |
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2009-05-27 |
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My mom had acoustic neuroma removed years ago and now I am having similar symptoms as she did. I have read because of questions of it being hereditery and found that persons with neurofibromatosis type 2 will pass this on as a hereditary thing to their children. How does a person find out if they have neurofibromatosis type 2 so we know if all of us kids need to be tested and checked out for the acoustic neuroma issues also? Guess want to know what blood work or what my mom needs so we can know as a family if we should be loooked over for this also? As I said I have symptoms and am being tested for several things, etc but no physicians I have asked yet have been able to tell me if this is genetic but evidentally if she carried this neurofib. type 2 then it can be hereditary and if we get one then typically we come up uwith a duplicate so we then get the neuromas if I understand right? Let us know what we need to do if you can point in righ tdirection? View Answer |
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2009-05-21 |
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Hi,
My brother had Duchenne Muscular Dytrophy. I have been tested and told I was not a carrier. I now have a daughter who is pregnant. Is it possible for her to give this to her baby.
View Answer |
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2009-05-16 |
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I have been diagnosed with Episodic Ataxia about 10 years ago, they finally figured out what I had and I have been on Diamox ever since. I am wondering if there are any foods that can cause the ataxia to occur? The diamox generally prevents the dizzy spells from occuring however I still have balance issues where I feel weak and like i could fall over eventhough the full attach doesnt happen. This usually occurs while I am standing for long periods of time or doing physical activity. I want to know if there is anything else I can do to prevent that from happening. No one in my family has this condition.
Thank you View Answer |
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2009-05-16 |
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how long can huntington disease last in child and adult? View Answer |
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2009-05-15 |
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My husband's uncle was recently diagnosed w/ Huntington's Disease.This uncle is also my 2nd cousin (my husband is my 2nd cousin once removed). My mother-in-law does not have Huntington's.
Is our son, who is 18 months old, at higher risk for the disease because of it being in the family that my husband and I have in common?
Thank you for your help. View Answer |
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2009-05-13 |
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What is the life epectancyfor a child with neurofibromatosis? View Answer |
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2009-05-12 |
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A family consists of 10 members including seven children, their parents and paternal grandmother. Five out of seven children were suffering from some movement disorder. Three of the children are of age group 11-18 years, and rest of the children were of age between 3-7 years. The children affected with movement disorder presented with "hearing loss" but the normal children had no such signs. The inheritance pattern does not seem to be X-linked, as disease is presented equally in both sexes.
The movement disability started in the affected children in very early age (approx. 2-3 weeks). MRI of a child shows no brain lesions or deformity.
Kindly help me diagnosing the condition. Or guide me whom should I consult.
thank you View Answer |
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2009-05-12 |
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My question is this: My uncle is 42 yrs old and has been fighting NF2 for 22 yrs. i read something about the merlin protein. If it helps slow down the growing of the cells why cant we develope the protein and inject it or something to that nature to help slow down the process. He is now at the point where he only has a few months left but if we can help someone elses family not go through what we have went through. Thankyou for your time. View Answer |
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2009-05-07 |
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My child was diagosed with PNKD. Soon after the end of a severe attack she was unable to speak. It has been 3 days. Could this be a seperate ongoing attack affecting only her vocal chords/larnyx? She has also had an attack each night since the initial. The last one appeared to progress into a epilleptic type siezure, including post ictal confusion. Can PNKD cause or co-exist with epillepsy? She also has a history of migraines and has had a headache the entire time. There are no abnormalities on the MRI. View Answer |
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2009-05-02 |
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Dear Folks, 7 pacemakers and many ablations later I decided to check out why I cramped after sugary food, hypokalemic periodic paralysis was diagnosed. I also have increased webbing on toes and to my horror on my left hand 2nd and third digits, does this mean I fit the Anderson Tawil syndrome. Yes, I have traced torsades de points, and yes my K levels were low every time I crashed out and went to casualty. My doctors treated the symptom not the cause. They were stupid and mostly patronizing toads. I always said that my mother had palpitations and her mother also. doh!. Anyway not dead yet, and windsurfing is a lot easier when I stuff potassium and calcium tabs. Not dead yet, do you know an expert with a brain?Fine tuning the management is needed.cheers View Answer |
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2009-04-30 |
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hi im a soon to be mom,..currently pregnent with my unborn whos 5 months so far.i have a history of Myotonic Muscular Dystrophy (MMD) that runs in my family.my mom has it and two uncles and two ants,and also my bro.my baby's father no history of this disorder.im also a carrier.so in that said i was woundering can i pass it on?and if so whats the percent of me passing this to my unbornchild?is there any way to prevent it from happening? View Answer |
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2009-04-29 |
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IS THERE TREATMENT FOR PRION DISEASE? View Answer |
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2009-04-27 |
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hi,i am a neurofibromatosis patient 27 years old,working in italy but my origin was philippines,i was operated 3 times in my hip and after that i was undergone in a cobalt radiation..after my cobalt last 2005,i was still suffering pain in my hip and my walking was not normal unlike before..my last operation found out that my hip bone was damaged with the tumor that's why they cut the small amount of bone and maybe the reason why my walking is not normal..i have also scoliosis,my another problem..
i just wanna ask if my neurofibromatosis will occur again because my first operation was 2003 then 2004 and the last was 2005 and then cobalt..
is it possible that my 2 children inherit my disease?
is my walking condition will back to normal?
thank you.. View Answer |
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2009-04-21 |
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My son is 13 he has not been diagnosed yet but he has developmental delay {set back} with abnormal {elevated} VLCFA his eeg and mri were normal the only thing I could find on line regarding vlcfa peroxisomal disorders which did not make sense to me with the clean mri. We have an appointment in Oct.to see a geneticist. I want to know what else it could be are they all as serious as ald ? What questions should I make sure I ask?
thank you
A Very worried Mom View Answer |
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2009-04-20 |
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my family has been diagnosed with myatonic dystrophy my son is having lots of back pain his hip has locked up his thumbs wont bend at all could this be a sign of the desease? View Answer |
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2009-04-20 |
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My husband's mother, sister and nephew have facioscapulohumeral muscular dystrophy. My husband had 2 tests (blood and a test where they stuck needles in his legs) and tested negative. No muscle biopsy was done. Should he have one even though both other tests were negative. We have four children (1 female and 3 males). If he is a carrier I am confused as to who he could have passed the gene to. Our neurologist suggests that it is passed through the x chromosone, but literature I am reading states that it is passed by an affected gene by male/female to either male/female. If my doctor is correct, my husband could have only passed this gene to my daughter. Is he correct? View Answer |
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2009-04-18 |
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hi i am a mother of a 2 1/2 year old little girl and from birth to about 1 year old she was growing normally at about 1 year 1/2 she had eye surgery because one of her eyes were crossing so it has only been 6 months since her surgery and she has stopped crawling, standing,being able to sit by her self and a loss of balance and strength she has had MRIs done of her brain, neck and spinal cord has had numorous lab work done she is seeing a neurologist a endocronology and a has a appointment to see the genetics but all test have come back negetive and we just dont know what is causing this to happen to her she had a 2nd MRI of the brain done and this time it is showing that the white mass of her brain the coating of the brain is detiriating but the doctors still dont have a clue as to what is causing this to happen so please help me to figure out what is wrong with her so we can cure it or treat it before it gets worse View Answer |
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2009-04-12 |
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My brother has charcot marie tooth syndrome. We have no other family history of this disease but my mother was told she was the carrier since it's a X chromosonal defect. I do not have this disease but am thinking of having a baby and was wondering about the likelihood of me having this gene and passing it along to my unborn child. View Answer |
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2009-04-01 |
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My Greatgrandmother passed away from ALS in her late 80's so we had thought that it was sporadic... recently my Great Aunt in her 60's who has had other health problems(heart and stroke) stated that she also had ALS but "was not having any more tests done" she just passed away, unable to walk but still talking and eating days prior to her passing. I know this is likely familial ALS but does age of onset have anything to do with the likelyhood of others being affected, my grandmother died at 53 and mom is only 49. no other history of als known. View Answer |
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2009-03-24 |
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Okay i wanted to know if neurofibromatosis type 1 is deadly or can become very serious? are the spots tumors suppose to hurt? please let me know. View Answer |
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2009-03-20 |
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Due to lower back pain, I had an MRI on lower back & it was discovered on L3-4 several cavernous hemangiomas, up to 1 cm in dia. Also on L4-5 there are peri-facet cysts to 5 mm in dia. Do I have to worry abt these, especially bleeding?
Thank you!
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2009-03-19 |
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i m clinical diagonosis of anterior horn cell disease with bulbar presentation. findings reveal normal NCV in facial, upper & lower limbs with denervation in facial, paraspinalis & few upper limb muscles. motor units have large amplitude with polyphasia & reduced interference pattern. lower limb muscles have normal motor units with no fibrillations. kindly suggest treatment as i have speech & swallowing problem. Age-52 female. View Answer |
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2009-03-18 |
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I have Neurofibromatosis type 1 and just had a malignant peripheral nerve sheath tumor removed and they believe that it way have grown back and if it has they want to remove it and do radiation, but i had herd that radiation was bad for people with NF 1 because it can make tumors grow. So is it true that radiation will be bad for me? View Answer |
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2009-03-17 |
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Hello!
My father was diagnosed with myotonic dystrophy in his 20s, and is now in his mid-50s, with rapidly advancing symptoms. My aunt (father's sister) is in a similar situation, exhibiting symptoms as well. One of my cousins inherited the disease at birth and died at 16 years of age. The other, who has the same parents does not have any symptoms.
Neither my brother nor I show any symptoms of the
I'm just about to get married, and I'm realizing that I have no idea whether I'm a carrier for this disease or not, and whether any children I may have would be at risk as well.
Any thoughts? Would testing be an appropriate step to take? View Answer |
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2009-03-16 |
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Does children with Neurofibromatosys get headaches a lot? What might causes it what can we do for them?
Thanks for the help View Answer |
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2009-03-15 |
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My mother was recently diagnosed with early-onset Alzheimer's at the age of 55. There is no family history of Alzheimer's. Our neurologist did not recommend any type of genetic testing, but my sister and I are concerned after Web research. My mom's mother lived until 75 with no disease and there is no history in her siblings. My mom's dad died at 50 (heart problems), but none of his siblings had the disease. My mom's only sibling is healthy.
Are genetic tests usually not recommended for early-onset Alzheimer's when there is no family history? Thank you. View Answer |
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2009-03-15 |
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als runs in my family, my mom died of it at the age of 34. what is the youngest age of someone who can be diagnosed with ALS? and is it possible that i could have the gene? View Answer |
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2009-03-13 |
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My brother 66, has just recd dx Inclusive body Myopathy (rimmed vacuoles) Our family is very long- lived & no hx of any muscle-wasting/weakening disease. We are each concerned abt the futures of our children. Is there diagnostic genetic testing avail? We are caucasian N & W Eurpoe extraction.Thank you! View Answer |
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2009-03-06 |
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I was recently tested and informed by the department of Veteran Affairs that I may have polymothsis but after a biopsy was conducted I was told I may have myotonic Muscular Dystrophy is that possible also I was told that their are alot of limitations associated with this disability am i able to go back to work with this disability? View Answer |
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2009-03-04 |
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I have a child who is 19 months old. both his father and I have cmt in our families. my husbands father has it. my grandmother, and 4 of her sons (they have all been tested and know for sure that they have it) my mother and her 3 sisters have not been tested but all show some signs of cmt. my question is how likely is it that my son will turn up with cmt? and myself for that matter? View Answer |
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2009-03-03 |
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My mother had FSHD and I have FSHD. I have been genetically tested (positive) for the condition. I suppose my condition is mild at 60 compared to others. I have a weakness on my right side including a drop foot and wing scapula. I always believed my condition got worse when I went through menopause. My siblings and I believe that was the case with my mother's weaking, as well. Prior to menopause I was showing Afghan Hounds, since I have gone through the 'change of life' my condition has worsened. Has anyone considered the effect of hormonal changes on the FSHD condition? View Answer |
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2009-02-27 |
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I was reading again about malignant hyperthermia before my 9 year old has surgery again. This time I noticed that many symptoms that appear with CCD or MmD are consistant with his such as: Undescednded testes, MH, hypononic, delayed sitting, walking etc. bi lateral hip dysplasia, early respitory infections, mild dysmporhia, and illness, eating issues etc. He has seen many Doctors. He's been diagnosed with an undiagnosed genetic disorder or sometimes chronic static encephalopathy. I gave up years ago trying to find a name for whatever he has but was wondering if it's something I should talk to a geneticist about again. He also has other symptoms, obsessive compulsive, tics, ADHD,microcephaly, small stature, failure to thrive (still) even while tube fed and eats orally, reflux, premature puberty. There's more but I don't have enough room...maybe I'm never mean't to know. View Answer |
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2009-02-23 |
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I'm a student at Duke University, and I'm interested in learning more about the prevalence of the Apolipoprotein E, and its relation with the Native American population.
I'm confused as to how the ApoE gene works. it was three alleles: E2, E3, E4, which gives six possible genotypes, but what are the phenotypes, and what are the prevalences of each phenotype/genotype?
Basically how does the gene work? View Answer |
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2009-02-21 |
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Recently ,my daughter who is 6-year-old bright, alert, charming with good memory power has been diagnosed with Giant axonal neuropathy mildly affected. Her peripheral nerves are affected with CNS involvement. She has densely packed kinky hair which is very uncommon as per Indian standards. She also has kind of crouch walk with feet pronation and improper balance. NCv showed mild sensory neuropathy which lead to take nerve biospy which confirmed the diagnosis of GAN. . Her vision and hearing are good. She is very bright girl, so initially the doctors did not think about any neurological issues going on. Do we have any treatment for such cases in your hospitals? Also kindly let us know if you have any ongoing research going on for the same neuropathy problems
We are desperate as like any other parents to cure this neuropathy.
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2009-02-20 |
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Dear Genetist,
my daughter who is 18 now, was diagnosed with early-onset primary dystonia 7y. ago, but had some symptoms even earlier. She has DYT1mutation. We have 4 children (26,24,15y.), others without symptoms for a while. What could you advice for our children, creating their own families? How often can it be repeated in their children, grandchildren? Is it more dangerous for the girl who has DYT1 mutation and symptoms? We don`t know about DYT1 in other members of family, no tests were done. Are there any researches done and materials available to read? Thank you very much. View Answer |
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2009-02-18 |
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Conditions such as Charcot Marie Tooth and other genetic defects are dogmatically considered as hereditary. But man has not been around forever, it had to randomly pop up sometime as a hereditary-type of disease, thus continuing the line to what we have today. Is it possible that today this disease could randomly pop up with no hereditary history at all?
Is it also possible that for generations the disease has remained in a family, but not enough to make anyone realize they have it, then suddenly worsen in one generation to the point where that person thinks it does "pop up randomly"? View Answer |
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2009-02-15 |
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Can the disease SMA be detected before symptoms appear?
And can it be detected prentally? if so how?
Any way to determine parents are carriers
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2009-02-11 |
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I have a cousin that was diagnosed with cerebral palsy. I was reading a magazine one day that had an article about angelman syndrome and it described this child completely. I also read that angelman syndrome is sometimes misdiagnosed for cerebral palsy, I was just curious as to anything that we could watch for to report to his doctor or if there are any specific tests we should request to be done in order to make sure this child is being treated for the correct medical condition. View Answer |
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2009-02-10 |
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I am a 25 years old girl.I am suffering from tremour in my hand and neck since my childhood.Especially when I got exicited or nervous.I become very consicious in new places with new people.When it happens I unable to sit easily and to have a glass of water or cup of tea in my hands.I am unable to write easily with my hands because of my tremour.I am a be graguate and a lecturer,but because of this I am unable to perform upto the mark.
Is this the symptoms of "Essential Tremour". View Answer |
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2009-02-09 |
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I have a daughter that has Lissenphaly and I was wondering what are the chances if I had another child that they would also have this? View Answer |
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2009-02-09 |
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I have a patient with Infantile Neuroaxonal Dystrophy confirmed this summer via DNA/PLA2G6 testing. Can you tell me how many people have been diagnosed with this disorder and what the average life expectancy is (5-10 years is a very broad time range) and also what seems to be the final cause of death. Is it pneumonia, apnea or just a random infection?
Thank you View Answer |
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2009-02-07 |
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I have been diagnosed with Hereditary Neuropathy with Liability to Pressure Palsy, along with about 20 other family members on my fathers side. My doctor doesn't know alot about it because it is rare. I was told by a Neurologist who did an EMG that I had it and asked if I had any Cherokee blood in me. I do. I was told that it runs in that blood line. Could you tell me if it does or not, or where I can find info on this. We have tried to get a Geneticist to research our family to see. But no one is interested. It seems to be affecting all of us in different ways but with some of the same symptoms. Any help or advise would be great. View Answer |
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2009-02-04 |
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hi, my boyfriend (24) has "Hypokalemic periodic paralysis".
he has it very rarly and very weakly, (five years it didnt attacked him and when it attacked him it is come to fruition only in his arm and only for two howrs..) his father and one of his brothers have it too in a realy weak position. i have 2 questions:
1. does the "Hypokalemic periodic paralysis" can come to fruition in my child in worse way in significant mode?
2. what the probability that his heart can be hurt? and how much it is dangerous?
thank you very much and sorry about my english.. View Answer |
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2009-02-01 |
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Hello I was wondering about muscular dystrophy. Would the drug 20-hydroxyecdysone, a naturally occuring alternative to steroids derived from arthropods, be a possible treatment for the disease? Studies show that with a high protein diet, this drug has the ability to produce results that surpass steroids with minimal side effects. View Answer |
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2009-01-27 |
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About 10 years ago, at age 50, I was diagnosed by a neurologist with adult onset SMA. The diagnosis was based on the doctor's yearly exams and a bunch of MRIs and EMGs. A blood test a couple of years ago was negative. A biopsy was never done. Is a biopsy an important component in making a diagnosis, or can doctors make the diagnosis based on the other factors? Several neurologists have examined my EMG test results and corroborated the SMA; I think one thought it might be CMT.
Another question is whether I, having limited calf muscles, wearing AFO plastic braces have a predisposition to having foot problems. I currently have a debilitating sharp pain in my right outer heel, that a podiatrist said is not Heel Spur nor Plantar Fasciitis, but probably a result of "impact". Should people like myself be wearing orthotics or some kind of padding inside the braces? View Answer |
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2009-01-21 |
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My neurologist has decided that I have bscl2, type 5, 17 and is attempting to get my dna testing covered by my provincial health authority.
I am wondering if there are any studies of people with this that might help me improve my muscle wasting? Or other symptoms that are showing up/
thank you so much.
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2009-01-21 |
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How likely am I a carrier of SMA?
My brother has 2 SMN1 & SMN2 genes. He: 1) has two alt sequences coding for glutamine at codon 154 (CAA or CAG in exon 3 he was heterozygous, carrying both A & G); 2) he was heterozygous for a G->T change in exon 6, which alters the codon for amino acid 262 (identified with SMA Type III); & 3) he was heterozygous for an A->G change within intron 7 at +212 from exon 7, significance is unknown
My mother carries 2 or 3 SMN1 genes. She: 1) carries the G->T substitution in codon 262 of exon 6 (S262I) found in my brother; 2) is homozygous for the G allele at glutamine 154 in exon 3; & 3) carries an inserted C at position +286 in intron 7, significance is unknown
My father carries 1 copy of SMN1 & 2 of SMN2. He: 1) is heterozygous at glutamine codon 154 in exon 3 (carries A & G); 2) is heterozygous for the A->G change at +212 in intron 7 found in my brother; & 3) doesn't carry the S262I mutation in exon 6 in my brother
Is free genetic testing available? View Answer |
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2009-01-20 |
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My brother died with mytonic dystophy and my older brother and his two sons have been diagnoised with same,I have a son and daughter and wonder if it can be passed on to them,or their children.
I would also like some information as to whom we inform regaurding the above.
View Answer |
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2009-01-12 |
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Hello,
My partner of 11 years has Central Core Disease and we both have decided that it's time to start a family. I am black girl and my partner is white, what effect if any will the dsease have on any children we have? My partner and is younger brother have this condition but the middle brother has no signs. He has web feet and both tendents to his feet are tight, so walking up stairs is a real problem.
Thanks for your time View Answer |
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2009-01-07 |
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I am married to a 37 yr old man who lost his father to HD complications. His family has a long history of the disease. My husband is overweight and has been his whole life. His father was always slender. I have noticed that of my husband family members who later on tested gene positive, all were slender. None of the memebers who tested positive were overweight all their life like my husband. It seems the overweight members did not have the gene. Does that make any sense. Is there any relationship between weight and HD even prior to becoming symptomatic? View Answer |
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2009-01-07 |
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myotonic dystrophica is running in my family from my mother side. we are four sisters and a brother. my brother and one sister is affected by this problem and another sister is also showing some signs. i am 30 years old and i believe i am not affected as such. my question is if i am not having any signs of this disease will my daughter who is two years of age be affected with this.
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2009-01-03 |
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My family has the genetic Disorder called Familial Periodic paralysis, up to this point in time it has not affected my personally because i dont have it. But my son (4) has it now an i really dont know much about it.
The known history only spans back to my grandfather an his unwillingness to tell us anything has left us in the dark. so what i know is he has it an passed it on to 3 daughters an 1 son it passed one daughter an all her family. In the daughters 1 has 2 daughters an the both have it, 1 had 2 sons an they both have it but in my famly my mother only passed it to my sister myself an my 2 brothers dont have it.
When i decided to have children it did not enter my head that i would pass it to my children cause i dont have it but now my son has it.
my question's are how did i pass it on? what are the chances my other son has it? an could my brothers be carriers aswell? View Answer |
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2008-12-29 |
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My daughter's father had NF1. We did not know that her father had NF1 until she was 5 years old. He had been diagnosised when he was 18 (in 1963) and had a tumor removed from his spine. At the age of 8 we took our daughter to OSHU in Portland Oregon. They did all the tests they could to determine if she too, had NF1. They said at that time she did not show any symptoms of the disease. Through the years she (and I) have always watched for the dark spots, the nodules on the eyes and so forth. She is now 31 and still shows no signs of NF1. She is wanting to have children, and her doctor said because her father had NF1, that she and her husband should have genetic counseling. We were told years ago that if she did not have it, she could not pass it to her future children. With new research is that information still correct, or have they found, through research that the statement is not true? Any help or advice would be greatly appreciated. Thank you. View Answer |
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2008-12-23 |
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My father died from ALS, inherited from his father, and my fiance's son died at 4 months old from Spinal Muscular Atrophy Type 0, inherited in an autosomal recessive pattern. What are the chances if we were to have children that they would develop either disease? Is there cause to be concerned? View Answer |
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2008-12-10 |
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I was diagnosed with sp parapalegia last christmas. Ilive in turkey where there is no medical help or knowledge of this disease.I would like information about physical therapy on what excercises i should do to strengthen the right leg muscles andhow to re train my walk.Iwould also like to know the name of the test to find out whether (pos or neg)a person is a carrier, as one of my f
our children seem to walk with symptoms of the above.thankyou. View Answer |
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2008-12-05 |
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To whom it May concern, I am a 47 year old female and I think I have emery drifuss autosmol. I have had cardic abalsion done in my mid- thirities. Set have some skeps but not like before. My mother and her motther had them also, I just had a nerve cond. test done that was not good. I have never been able to build muscle up in my body. through therpy or physcial fitness. The pain I have is getting worse each day. I think soon I will need a wheel chair to get around. It has taken me all my life of being to I just need to work out more and have tried to know avail. I finally found a doctor to run a nerve cond. test. Now they are starting to run the normal routain of test. Mri ect. Two Doctor said they thought I have a lower form of Md. I look at all of them and this fets me almost to a tee. How can I get them to check me for this. I don't want to spend years getting test after test when I'm sure this is what I have. View Answer |
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2008-12-05 |
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i am 4o years old and have been diagnosed with nf1
which i inheritated from my dad.
i was diagnosed when i was about 3o and just wondered
if i shoud be having a yearly mri/bone scan/or any other
testing.
my family doctor told me not to be concerned if some
thing comes up then we will deal with it.
Just wondering ..should i be seeing a neurologist?
my family does not know enough about the conditon
but several family members do have neurofibrimitos 1
any ideas for me? View Answer |
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2008-11-28 |
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I need help in piecing together the various symptoms that my son displays. He's seeing a pediatric neurologist, but his "wait and see" approach is not my style. My son is 15 mos old and has been diagnosed with hypoplasia of the corpus callosum and underdeveloped white mater via MRI, then with myocolonic seizures via EEG. He's now on Topamax, but I cannot tell a difference. He is golbally dev. delayed- not yet sitting or reaching with his hands. No history of family genetic issues and he's passed all of the initial genetic and metabolic screening tests. He's also lost some enamel on his two front teeth- pediatric dentist was useless- also said "that's odd-come back and see me in 6 mos". He demonstrates what looks like dystonia at times-I'm wondering if he has some type of leukodystrophy. Wondering where I should go next. Who can help me put these symptoms together? View Answer |
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2008-11-26 |
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Is epliepsy inherited? (not resulting from major head trauma) View Answer |
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2008-11-26 |
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does spinal muscular atrophy affect every other child if both parents are carriers of it? View Answer |
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2008-11-25 |
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One of my older sisters apparently has Cerebral cavernous malformation or cavernous angioma. I saw a TV show that suggested it could be genetic.
Is it and what test should I have done along with my siblings and/or parents?
Thanks. View Answer |
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2008-11-17 |
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I have been diagnosed with CMT by my neurologist. I have pes cavus, high arched feet and had surgery as a teenager. My symptoms have not progressed. I recently underwent testing through Athena and met with a genetic counselor to determine the type of CMT for family planning purposes. The molecular testing was unable to find sequencing to support Type 1, I was advised that my case is unique as they could not determine the type of CMT and the worst case scenario is a 50-50 chance of inheritance. I was informed that it could have been a new mutation as there is no family history of CMT. What are the chances of passing this on and if the child is affected can it be worse than me? View Answer |
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2008-11-16 |
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I seen a study dated 11/05/08, they tested 63 people previously diagnosed with Fibromyalgia,and 2 of them actually had Myotonic Dystrophy type 2. I have one aunt and one uncle that had muscular dystrophy on my dad's side. I am unsure of the type that they had, but both were in a wheel chair by their early 20's, I believe she passed in her 40's, and my Uncle surprised his Dr.s by making it into his late 50's. I hope this is enough info to help answer this question. I was diagnosed with Fibromyalgia in 1996. With my family history, is there any chance of this being MD type2? Thank you for your time. View Answer |
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2008-11-07 |
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sir.
my brother is suffered by neurofibrometasis as called by docter.That so many wounds like tumour are seen in whole body. He have no any other problemexcept this and he is looking ugly . if any possiblity of treatement is
available for this pl geve reply . can he will marry. View Answer |
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2008-11-07 |
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Dear Sir / Madam,
Two of my Dad's brothers had muscular dystrophy but my Dad didn't. I am 6 weeks pregnant and a bit worried that my baby could have it.
Could you please advise me.
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2008-11-06 |
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My daughter, 10 months, has not been diagnosed with a congenital myopathy, but her neurologist indicated that this could be her case. After researching the various myopathies, it appears that if she falls into any of the categories, it is Central Core Disease. He does not want to order a muscle biopsy at this time. Is it possible to diagnose CCD with a routine blood test using genetic testing? She is already getting a blood test to measure her AFP levels (which were elevated the first time) so I wanted to get the blood for this CCD test at the same time if at all possible. I am also wondering who can order the CCD test - can my pediatrician ask for it? What is the coding for this blood test? View Answer |
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2008-11-06 |
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We adopted a son 15 mon ago with L1 Syndrome. He was shunted for hydrocephalus 3 days after birth. That shunt failed almost 6 weeks later and was replaced with a programmable shunt, which is so far working fine. When the first shunt failed, it was overdraining causing his skull plates to begin to overlap. Our last CT (2 weeks ago) showed the plates are starting to fuse together which will obviously present problems. Our neurosurgeon is suggesting we'll need to consider surgery to correct the issue, but asked us about the life expectancy for children with L1 Syndrome, not wanting to negatively impact his quality of life if there is some situation that would result in his life expectancy being worse than another child or more aptly another child with hydrocephalus or neurological condition.
Can you advise what that might be, factors that contribute to or detract from it, or where we might find similar information. Thank you in advance. View Answer |
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2008-11-06 |
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My daughter went to a high risk clinic as she has Spina bifida for care with her second pregnacy. First pregnacy cared for at Mount Siani High Risk baby fine. Went to a different high risk clinic which did not do much at all.The last few months of pregnacy the baby did not move very much she was very sacred went to the hospital they checked her and said the baby was just resting. Even her Dr's at the high risk clinic did no testing they said the same. She was born by C-Section Mar 20-2008 died two weeks later at the request of the hospital as they said there was nothing they could do for her she would live on live support for the rest of her live. Oh she also had a heart defect they tested for SMA first test neg tested again possitive. My daughter still has not seen those doctors to put a rest to this not even sure if that is what she had no were in either side of the families has this ever happened. Thank You for any insight you could give us. View Answer |
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2008-11-03 |
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My girlfriends mother has neurofibromatosis type 1. Neither her or her brother have exhibited any symptoms of this disorder. She is very fair skined with many freckels and red hair but other than that no indications at 29 years old.
Her fear is that she is a carrier of this disease and does not want to pass it on to children. Is this possible if she does not have the disease herself?
Assuming she does carry a gene what are the chances of passing this on to children? Is it possible to test embryo's for the gene?
She is looking at either not having children or if possible having a embryo implanted if its possible to test for it being free of the gene. View Answer |
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2008-10-31 |
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I have axillary freckling under one arm. I have no other evidence of NF1. I am slightly below normal height a 59 year old woman - 5'2". I have high IQ - post graduate degree - very precocious child. I have CLL and have had Colon Cancer and was tested for Lynch Syndrome which was negative. Is axillary freckling on its own definitive for NF1? Thank you very much. View Answer |
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2008-10-30 |
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Okay here it is, my Dads family carries cadasil which my father was diagnosed with this disease a few years back.Only men in my family have gotten it,what does that give me for odds of contracting Cadasil? and one other question if I am a healthy person amd keep in shape does that give me better odds not to contract it? I also get headaches/migranes on and off should I be checked out for it at the age of 24? View Answer |
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2008-10-30 |
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My husband's sister's 1.5 year old son was diagnosed with Spinal Muscular Atrophy earlier this year. We have been considering adding an additional child to our family of four but wanted to be certain that my husband and I are not carriers of the SMA gene. I am sure you know but it usually takes two carriers to produce a child with SMA. There is a 1 in 40 chance of being a carrier in the general population and my husband's chance is 50% being a carrier or not. We would also like to know if he is a carrier so that if he is we can inform our children on the need to be tested when they are older and ready to start their families. My ob/gyn is supposed to be getting a referral started for the Emory clinic in Atlanta but wanted to be certain they offer or can atleast send it off to the correct place for testing. We really need this genetic test to be certain before starting for a third child. View Answer |
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2008-10-25 |
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i have a son he has NF1 he has some caf?-au-lait spots and pseudoarthrosis tibia in his left leg he is one years old we are waiting to do the operation in his leg i want to ask the children with NF1 and pseudoarthrosis tibia they will nefer to cure from pseudoarthrosis and NF1 in this case mot mild and it will be growth faster please i want y to avser the Q View Answer |
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2008-10-20 |
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Dear sirs,
i would like to inform me which labs do sequencing for episodic ataxia, type 2. I have a patient who has already done tests for SCA 6 (negative), and there is a posibility that EA2 might be involved, so we have to do sequencing for a possible mutation at the CACNA1A gene to find out (and not just the repeats).
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2008-10-19 |
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I am 23 years old and I found out that I have Myotonic Dystrophy Type 1 a couple of months ago. I seem to fall into the "classic" form of MD and I read that the life expectancy is 48-55. When I was told I had this I got the impression that my expectancy was normal. So which one is it? View Answer |
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2008-10-19 |
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My son is 35 years old and thinks he has myotonia congenita. Where and how can he be diagnosed and counseled about the treatment for this disorder? View Answer |
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2008-10-19 |
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my son is 21 and has been ataxic since the age of ten. He just recently began having severe leg pains which they are treating with tylenol 3 and flexerill. I was never told that serious pain would be involved with his leg problems. Is this the case for most ataxic patients? View Answer |
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2008-10-18 |
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My brother was diagnosed with neurofibromatosis type 1 and had a large benign tumor removed from his scalp. I have been having tingling in my face and stabbing eye pain for the last 5 months. I am getting testing for trigeminal neuralgia and blood work as well. Does neurofibromatosis ever affect facial nerves?
I am just hoping this is a vitamin deficiency or something
Thanks View Answer |
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2008-10-11 |
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Hello, I have muscular dystrophy. I wanted to know if it would be a more possible solution to find a way to completely cancel the half of my genes that my mother gave me and just use what my father gave me. It might sound absurd, but it seems like an easier option to get rid of a gene than to find a way to insert one. Thank you View Answer |
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2008-10-09 |
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My sister has neurofibromatosis.I have the cafe-au-latte spots.We have a history of Acute Intermittent Porphyria. My sister has had many lumps removed some malignant. She's now diagnosed with T-cell lymphoproliferative (leukemia).Where do we get help for all of these. View Answer |
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2008-10-07 |
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is progressive myotonia congenita fatal?
what is the treatment? View Answer |
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2008-10-03 |
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I have the type of CMT which started slowly making me clumsy in early childhood and I HAD VERY HIGH ARCHES ,DEVELOPED Hammer toes and had to have corrective surgery on my feet at 13 yrs. old and in my later thirties (I'M 56 NOW)I started to have increased symptoms my hands ,started to be affected and I had to start to wear braces DO TO SPRAINED ANKLES AND INCREASED FALLING. I have 5 sisters and two brothers none have this disease, HOWEVER MY MOTHER HAS RESTLESS LEGS AND IS INCREASINGLY CLUMSEY AND HER HANDS MUCH WEAKER HER FATHER, DIED YOUNG BUT HAD VERY HIGH ARCHES COULDN'T EVEN GET HIS SHOES TYIED OTHERWISE THERE IS NO FAMILY HISTORY CAN YOU TELL ME WHAT TYPE OF CMT I MAY HAVE . SO FAR NONE OF MY NIECES OR NEPHEWS HAVE THE DISEASE [9] I HAVE NO CHILDREN, ALSO MY MOTHERS SISTER HAD 3 BOYS AND 1 DAUGHTER NONE HAVE SIGNS OF THE DISEASE. My father's family had no history of the disease either and had a large number of family members. THANKYOU FOR YOUR TIME View Answer |
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2008-10-01 |
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My 13 year old daughter was just diagnosed with Friedreich's ataxia. She has been showing signs of the disease for over four years. I have a twenty year old daughter and a 17 year old son who show no symptoms. I've read the disease usually manifests between ages 8 - 15. Could the other two be affected and not yet showing signs? View Answer |
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2008-10-01 |
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I have a 3 year old with Nf1.He also has epilepsy.NF1 runsa on his fathers side of the family.We did not know about it until he had his first seizure.My husband's father died of luekemia at a young age and I was wondering if there is a link with between NF and Luekemia? His father was in his early 30's.I was also wondering how often a MRI should be done on a patient with NF? His seizures have changed.He has more than one type of seizure now .His last MRI was over 2 years ago. Thank you for your insight. View Answer |
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2008-09-29 |
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Why is it myotonic dystrophy is worse if the mother passed it on rather than the father? (This statement was made on page 222 of "Human genetics, Concepts and Applications" by Ricki Lewis.) View Answer |
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2008-09-29 |
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My son has been in hospital for 5 months (he is now 6 months old). Despite constant tests a doctors have been unable to come up with a diagnosis.
The only test that has come back with any abnormaility is the muscle biopsy and this shows nemaline rods. However, he has severe hypertonia in his abdominal muscles causing frequent apneas that this condition seems unlikely.
All EEGs, EMGs, Xrays, MRIs, blood tests are showing as normal.
There was also a COX IV deficiency showing in the biopsy but doctors believe this points more to an end result of another condition rather than COX IV defiency itself.
At this stage we really need to find a diagnosis or decide whether it is fair to carry on with rescussiatation as a method of managing the illness, which of course it isnt.
Thank you for your help. View Answer |
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2008-09-26 |
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I have the symptoms of Paroxysmal non Kinesigenic Dystonia. My symptoms are related to being rear ended in a road traffic accident and are therefore secondary.
Can anyone tell me whether there is a definitive diagnotistic blood/dna test for this condition that would either rule it in or rule it out? If so, what test would that be?
I would be very grateful for any input that you may be able to provide.
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2008-09-19 |
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charcot marie tooth disease !!! type 2
4 generations in my family suffered from this disease.
how and where can i pass a test to determine on what gene (chromosome) ?
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2008-09-19 |
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Can symptoms of CMT be confused with Parkinsons? My husband has been diagnosed recently with Parkinsons but he has no tremor and I think he might have a number of the symptoms of CMT eg high arched feet, little sensation of pain/hot/cold, very thin legs etc.
Would an MRI lead to a firm conclusion? Is it possible he could have CMT? Can a person have CMT AND Parkinsons?
Thank you. View Answer |
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2008-09-13 |
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I have a 46 yo male who has had NF1 most of his life. He has a very positive attitude. He is devoted to exercise; weight lifting and stationary bicycle. He weighs 48.2kg and is cachetic. Is there any disease related reason that would prevent him from gaining weight provided we can supply adequate calories? View Answer |
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2008-09-13 |
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My 8.5 month old daughter-She is not yet sitting. Our Doctor says she likely has a muscular disorder. She is rolling very well and moves actively. she has been improving in all areas of late. We were shocked to hear there was a problem. She is strikingly beautiful(not just a proud parent). The doctor in our opinion made this prounouncement after a quick examination of her. She ordered full testing including a biopsy of her muscle tissue, blood tests and electrical something test. She said our girl would likely need assistive devices to walk if at all. She jumps around strongly and actively in the excer saucer and sits fine in the bumbo. I don't beleive there is a problem. We would like to have a second opinion. View Answer |
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2008-09-11 |
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I want to know if there is a blood test to determine if I have the genetic condition that my father had and my brother had...called myotonic dystrophy.? View Answer |
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2008-09-05 |
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I am working on genes causing Hypokalemic periodic paralysis for a hospital in Korea. We have some patients with Hypokalemic periodic paralysis and planning to do mutation screen on them sooner or later to identify causative genes. In order to do this, we are gathering information on the causative genes as much as possible. I am getting a bunch of info from different kinds of sources. However, I couldn?t find the expression study of CACNA1S, SCN4A, and KCNJ2. All cDNA of those genes were from skeletal muscle. We are especially interested in sequencing full coding sequences in those gene from cDNA if we could get transcripts from blood. Could you please provide me the information if those genes were expressed in blood? I will really appreciate if you could help me on this. View Answer |
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2008-09-01 |
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Regarding the charcot-Marie-Tooth muscular dystrophy--my father had it, my uncle has it now, and their father (my grandfather) had it as well. My father passed away 11 years ago and my uncle at 57 is still with us. I am a female and was wondering if you suggest I get tested for this disease. Im 36 years old and healthy, as far as I know--reg. exersize and I eat right almost all of the time.
Thank you in advance View Answer |
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2008-08-29 |
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I am suffering by Myotonia Congenita.
Q1. how to know this Thomasan Myotonia Congenita or Beker Myotonia Congenita.
Q.2 my wife is 2 month pregnant. So I am worried about my baby. If there is any test by which we can know the presence of this disease before the birth of baby, please let me know the detail.
Regards View Answer |
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2008-08-28 |
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How would you approach a situation where an adult child would like to be tested for Hungtington's Disease while the At-Risk parent would not? View Answer |
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2008-08-27 |
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My son passed away in 2005 from SMA Type 1. He was paralyzed in-utero. His condition was so severe when he was born that without the aid of the vent he would have died right away. He died before his diagnosis which came about 2 wks later. July 2007 I had the same test ran at a different lab, and mine returned negative for a carrier. I am really confused. Any info online that I have read says that BOTH parents have to be carriers. Have you heard of this happening, and do I need to have the test repeated? The tests were not performed at the same lab. I am not sure if that makes a difference. His was done at Athena and mine at Baylor College of Medicine. Can you help?? View Answer |
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2008-08-22 |
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I developed Thomsen's disease at approx 19 yr / am now 43/female. 1st child developed around 7/8 confirmed at 9/ male. 2nd child female by different father also developed around 11/12. Neither of my parents had this or anything like it - my only sibling - nothing. Father passed 20 yrs ago, paternal gfather passed too, maternal - gfather passed. Just found out paternal guncle died and will be autopsied - should I ask for something or is this where to look? Thank you View Answer |
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2008-08-20 |
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I have a neice with canavan disease and a cousin with children that have metaboli mad disease, is there any connection between the two
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2008-08-12 |
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I would like to know the FXN gene mutation caused to Friedreich Ataxia , at intron1,9q13-q21.1 and their prevalence in different studies .
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2008-08-08 |
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My paternal grandmother had neurofibramo/neurofibromatosis but my dad did not have have it and neither do I or my brother. What are the chances of this disease appearing in our children. Both my brother and I do no have any visible signs of this disease. Our wives also do not have visible signs of this disease.
My dad has 4 siblings (out of 10) that have this disease but he does not have it. View Answer |
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2008-08-06 |
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I have recently learned that my younger sister and her son both have Charcot-Marie-Tooth Disease. I have been seeing one doctor after another for the last 2 years trying to get a diagnosis for strange nerve issues on the left side of my body. Should I ask my neurologist to test for CMT? View Answer |
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2008-08-04 |
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I have NF type one and i have a question... i am interested in having a child and i wanted to know if there is a risk to my health. i know there is a 50% chance for my child to have NF. I just want to know if i get pregnant will anything happen to me, will i have a higher chance of a tumor forming or anything else???
thank you for your time
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2008-07-31 |
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one year ago my son lost all movement jaw to feet. now he can move all but not legs. he can stand he has to move his legs with hi hands. at times he will still lose all movement this can last 1 to 30 days.he then will gain the upper body not his legs he has filling. my Dr. said my son has conversion disorder I don't agree with my Dr. as my son is a happy 14year who loves sports and misses playing. little medical testing has been done and Dr. will not talk to me about my son. I wood like test done. i don't know how when i can't see another Dr. not a psychiatric he has seen lots. my Dr. won't send my son for medical testing he fells my son is faking this. so a year later I'm still looking for help. thank you please help a single mom of 5 boys cry for help. View Answer |
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2008-07-26 |
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My son was has DMD. He is 11 years old and doing very well. He is still walking ,but with some issues such as toe walking and some mild weakness. have just recieved my genetic testing results back and am indeed a carrier. We have a duplicating mutation encompassing exon 44 with genomic breakpoints at nucleotide positions g.32.191,750 in intron 43 and g.32,030,750 in intron 44. My next question is what does all that mean. Cardiomyopathy runs in my family. No one else in my family has this genetic disease. I have brothers but they and their children are healthy. My daughters cries about their body hurting all the time especially thier legs. mine legs causing me great amounts of pain. Sometimes I cannot even walk. Is it all linked to my being a carrier of DMD? The doctors have never been able to figure out what is wrong with me. I already am having mild cardiac problems. We all have asthma. I am confused and just want answers. Do you have any information that could help us? View Answer |
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2008-07-25 |
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I have a long history (since childhood) of leg weakness and pain (esp. when walking or running), moderate pes cavus and hammer toes. Also mild inverted 'bottle' formation of the legs as a whole.
I was diagnosed with MS at 31, but never had a positive LP (3 draws, all negative for markers). History of relapsing CNS demyelination since then consistent with relapsing-remitting MS.
3 years ago was diagnosed with carpal tunnel bilaterally in the hands, no pain, only numbness.
Family history includes paternal grandmother wheelchair bound for unkown reasons.
it seems to me less likely that these signs are actually coincidences (i.e. happen to have ms, carpal tunnel and this leg/foot formation); rather that they are all sequelae of the same underlying disorder. Could this be a variant of CMT?
Thanks.
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2008-07-24 |
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My husband has Myotonia Congenita and my husband has been in and out of the hospital so many times in the last 8 months. They found he also has a pancreas deficency and said that may be agrivating the Myotonia. Last Sunday my husband had a heart attack. When he gets his muscle spasms, is it possible that he is also getting artery spasms and the blood flow is getting cut off? And if so, is it possible that he did not even had a heart attack, it just mimicked one? They found no enzymes in his blood work during his heart attack and are calling him a medical mystery and that is why I am asking this question because maybe he never even had a heart attack. I don't think he should be on heart medicine if he did not have a heart attack. Not many Dr.'s are aware of what Myotonia Congenita is and so I need to find out from someone who knows more about this whether or not my thinking might be correct or not. Thank You for your time. I look forward to hearing from you.
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2008-07-18 |
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My position with Sunny Hills Services, is of a behavioral specialist. I am working with a 6 year old boy with neurofibromatosis type 1.
Is there any information on behavioral problem that relate to this condition? Any information on working with behavioral problems and this condition?
The child is head banging for one.
Thanks so much
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2008-07-18 |
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I have a genetic condiction called type II neurofibroma. I would like to know if there are any clinical trials here in the state of Georgia. If not, then who is the best Neurologist who specialize in this condition? Are there any new drugs or is radiation a treatment outside of surgery? Also, is laser surgery an option? View Answer |
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2008-07-16 |
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I am 34 years old. I was diagnosed with BMD (Becker Muscular Dystrophy) in 1989 in Moscow. Now I am confined to wheelchair. As a result of my basic disease I also suffer from dilated cardiomyopathy. What could you advise me? I have never passed through biopsy and genetic or DNA testing. Is there in the world a clinic where this disease with its severe consequences is studied and cured? Is there any hope that in the near future the effective treatment of this disease will be found and the quality of life of such patients will be improved? As you know this disease is slowly but persistently progressing and it can be temporarily suspended only by timely and correct treatment. View Answer |
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2008-07-10 |
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My child is suffering from DMD.
His CPK level is very low.
After sitting when he tries to get up he hold his knees for support. He cant get up without that but sometimes he do.
His Gene Test (deletion analysis of dystrophin gene)was done in which its written that
"The DNA was tested for the presence of 18 exons* of the dystrophin gene. A deletion in the Dystrophin gene involving multiple xons (47-48) was observed"
(*exons tested : pm, 3, 4, 6, 8, 12, 13, 17, 19, 34, 43, 44, 45, 46, 47, 48, 50, 51, 52, and 60)
Please tell me sir is there no cure for this problem?
He is our only son. What should we do?
thanks View Answer |
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2008-07-08 |
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My father died of ALS at age 83, my sister died of it at age 64 and my nephew has had it for about four years (three on a respirator)...my two brothers/my sister's three grown children/my brother's other two grown children/myself are all symptom free so far. What is the use of genetic testing/what is the reliability (sensitivity and specificity)? My major interest is in being able to address the issue with my two grown children, both young adults. my brother and his affected son have had some testing, but he is not willing to help with any info...
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2008-06-20 |
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My mother-in-law had neurofibromitosis. 3 of her 5 children also have this condition. My husband does not have the physical signs of NF that his siblings have. Could this condition be passed down to our children?
Thank you.
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2008-06-17 |
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I am 40 years old. I have pigmentation and tumours all over my body. Doctors diagnosed it to be neurofibromatosis. but ihad no learning disabilities.now my daughter-12 years- also seems to be developing spots like me.what do i need to do.where can i get medication. is any treatment available.or can i have a surgery View Answer |
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2008-06-15 |
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I had a cousin who was diagnosed with a condition as a child called "creeping paralysis". It started on her as a baby when she couldn't hold her head up, later progressing to her whole body slumping when she sat and then finally rendering her unable to walk. The doctor said it was an accident in the birth canal, but we have never believed that as her condition progressively got worse and an accident would've been static. Of course this was back in the 1930's before a lot of these genetic diseases were known. We can't find out if what she had was what we know today as muscular dystrophy, spinal muscular atrophy or a form of ataxia. It has never shown up in another family member since, although several female members of the family have arthritis of various forms. My cousin died in the end of kidney failure. We have always been concerned that what she had was a genetic disease & could show up in future generations. View Answer |
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2008-06-12 |
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Since 4/06, I have tingling and numbness in the feet and hands. I have tremors in the arms, legs and face, eye spasms. I have been diagnosed with peripheral neuropathy. I was tested for immuno disorders but cleared. I have bladder problems (pain and frequency). My unconfirmed diagnosis is IC. I have irregular bowel movements (including dirriahea and nausea). My possible diagnosis is IBS. I have problems healing: 6 of the last 8 months on 4 antibiotics for 3 infections. I have Raynauld syndrome. I have had numerous blood tests, nerve tests, arterial doppler, stool samples, etc. with nothing conclusive. I have changes in vision even with new prescription. I have no energy. Simple chores can cause me to hurt. I feel my problems are linked seeing 5 different specialists is no help in diagnosing me. I am referred to a Reumatoid Arthritist for a possible connective tissue disorder. Can you help find the connection? Frustrated in MS. View Answer |
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2008-06-09 |
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My qeustion relates to the muscles of this disease, Of sma type 1. I am a parent of a four month old female newly diagnosed with sma type one. I am wondering if anyone has ever looked into the use of steroids to build muscle strength. I know this may have been look at as an option already. I don't know much about steriods, but I do know a bit for asthma specailists, and I do know that body builders use it to build thir muscles. How would this defeat the use of increasing muscle tone in a child that needs the strength of thier muscle. I do know there is the risk of a pre heartattack (enlargement of the heart). I have just been wondering! As I have said studies have been looked at in every angle and I still pray for a miracle for my baby! Thank you for your time! View Answer |
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2008-06-08 |
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My mother's mother had Huntington's Chorea and my mother was a carrier. I do not know if my mother ever got the full-blown disease, because my father got custody of me when I was a baby. What are my chances of having this disease? Is it still 50/50, or is there an increased chance if she was only a carrier? Does it skip generations, or is it all left up to chance? View Answer |
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2008-06-03 |
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dear
i am a physical tainer and have a freind, woman age 55 with mild myotonic dystrophy type 2.
what are the recomendations for trainin, aerobic and wheight training for such a patient.
will it help to delay the progress of illness?
i would be most gratefull if you could supply me with information or resources.
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2008-05-17 |
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Hello I am doing a research paper on the genetics of Alzheimer patients. I chose this because my mother had this disease and this will be closure for me and my family.
Now my mom had this, her sister had this(which at the same time and they both were very close). Now my mom's other sister have this.
Is it common for this to be in the same family back to back and would that mean that my sisters and cousins might have this also, and what about the remaining siblings of my mother.
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2008-05-14 |
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My mom, brother, and both of my older sisters and one of the two nephews that i have, have Myotonic Muscular Dystrophy. I have the gene but it hasn't affected me yet. I am 19 and eventually i want one child. Is there anyway that i can get some type of surgery or something of that nature so that my baby wont get the gene or has a lesser chance of getting it. I will do anything and spend any amount of money possible to have a healthy baby, suggestions and referrals would be great? View Answer |
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2008-05-12 |
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a family member has been diagnosed with Huntington's. I have noted that there is a similarity between Prion and Huntington's at least as far as general media information. Mutant proteins, destruction of brain tissue similar symptoms, etc. Different genes are involved in each of the diseases but is it possible that there is a connection and would similar treatents be effective at least in slowing the progression. Currently, the affected member of the family is taking high does of antioxidents, cellular energy booster and lipids (lecithin). View Answer |
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2008-05-10 |
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My son is now 9. He has very long arms, legs, fingers and toes. When he was 3 we had him evaluated for DMD due to muscle weakness. He's had two doctors. First diagnosed him with polymiosites. He has taken prednisone, methotrexate and three rounds of IVIG (no improvement). Current Dr. at Emory disagrees with polymiositis diagnosis and took him off all medication. When sitting on a table being evaluated by PT or Dr., his leg strength seems almost normal. However he cannot rise from the floor or run well. I've noticed stretch marks on his hips. My question is, what kind of genetic testing could be done to get a firm diagnosis for my son? Could muscle weakness be side effect of other problem? We have no family history; however, my grandfather was 6'4, very lanky, unusally long fingers, high palate. He did have heart problems but no mention of enlarged aorta. Could my son have a mild form of Marfan? View Answer |
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2008-05-09 |
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I have Charcot-Marie-Tooth disease I was getting along perrty good working and playing golf. I had a little numnes in my feet, and one day a coulpe of years ago I was struck by a van and knoked me down since thin I have had alot of problems walking and wrighting is there anyway that could have affected my condition. Thank you for your time. View Answer |
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2008-05-07 |
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If a man carries a diagnosis of Charcot Marie Tooth but has never had genetic testing or counseling, would a geneticist be able to help us determine whether his newborn daughter (asymptomatic) will also have CMT? Would early intervention with PT and OT be helpful even before symptoms were noted?
Many thanks for any input. View Answer |
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2008-05-01 |
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My half-sister (7 years old) has myotonia congentia the beckers form. I am her older sister (22 years old). I do not display any signs or symptoms of the disease. I know that with myotonia congentia people can experience malignant hyperthermia. Can I also potentially experience malignant hyperthermia? View Answer |
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2008-04-24 |
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Having suffered lifelong problems with weakening quadriceps muscles (I have osteoarthritis and though I have worked hard in physical therapy over the years, my quadriceps muscles appear to be wasting); having seen many orthopedic surgeons over the years, one finally recommended I have some genetic testing, stating that the severe weakening of the quads could be the result of some disease or syndrome. I thought perhaps I had Marfan's, or something of that nature, and I am checking it out with my primary care physician. However, would genetic testing be the way to go for the ever-weakening quads? The muscles are severely weakened. I am 5 ft. 10 inches, 148 lbs, a middle-aged female. Thank you. View Answer |
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2008-04-22 |
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My mother is 78 and apparently having difficulties. She is very bright (Mensa Member) and seems to revel in the notion she has alzheimers. She joyfully goes to the local testing centre and completes puzzles, etc, with qualified phyciatrists to determine the extent of her disorder. There is a difference of opinions within the family as to whether she is manufacturing her difficulties to gather attention, or actually suffers from alzheimers disease. She happily tells her family doctor that her children may have access to medical concerns, then 15 minutes later cries. She tells us that this stage of her life testing for memory disorders interests her greatly. Any feedback wouldbe greatly appreciated. View Answer |
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2008-04-16 |
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My son's father ('Bob') has early onset Alzheimer's Disease. It must be characterized as "familia" because my son's grandmother (Bob's mother) was diagnosed with AD at age 54 and died at 61; Bob is only 53, and Bob's younger brother was diagnosed at age 48. Bob's other brother, aged 51, and sister, aged 45, appear to be unaffected and in good health. I am concerned about the possibility of my only son having inherited the early onset AD gene from his father. I read about the possibility of the "X" chromosome, which would make it impossible for male to male inheritance, but do not know genetically how Bob inherited this from his mother. Questions: What are my son's chances of developing AD? Is there a test that can determine the genetic pattern Bob carries and thus passed onto our son? (We're hoping for the "X" chromosome pattern.)
Thanks for any light you can shed on this scary subject. View Answer |
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2008-04-14 |
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Several members of my maternal grandfather's family have been tested and found to have Central Core Disease. My mother is 63 years old and has 2 discs that were not formed (according to her doctor she was born with this) and 2 degenerative discs. She was operated on 1 1/2 years ago and is still on a walker and complaining of pain. She now thinks she has this disease. In reading about the disease, it seems to be worse in children and improves as you age. Would this be a cause of constant pain in her lower back, hips and knees? (She is disabled (for 4 years now) and on Medicare/Medicaid). View Answer |
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2008-04-13 |
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Hi,my 4.5 year old son has had 2 epileptic seizures recently and put on medication right away. He's a happy, active and a common child with a slight speech delay but we were reassured by the therapist that's because he's brought up in a bilingual household. His first cousin, whose mother is my husband's sister, suffers from Angelman Syndrome. Does that mean he could have inherited epilepsy for a life time? What are his chances to grow out of it as he becomes an adult?thanks! View Answer |
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2008-04-12 |
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dear sir/madam,
my son was diagnosed with DMD. I have had two CK test so far the first came back at 700, the second came back at 3oo, could you please tell me what a normal reading should be please. I have one more test to see if i am a carrier of DMD and very nervous about it. also i am waiting fro my sons blood results to come back, this is to check for mutation, what exactly does that mean please.
kind regards View Answer |
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2008-04-12 |
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My brother has ALS Dx March 04 at 42. I am his sister 44. In march 2006 I started having Fasics. July 06 mild cramps in Calf'S. First Dx BFS and PN. And then a year later, clear. Neuro. Suggested Mag. Calcium and Potassium test. Normal. All MRI'S EMG's Blood Test normal. Until Feb 08. New Neuro. EMG results PSW'S and Fibbs. A lot of denervation in Lower back. Recent Muscle Biopsy sent to U.A.B. to Dr. Oh. Results are not back yet. Slight Atrophy in Left lower inside ankle. Smaller Calf's. Stiffness on and off in legs. Muscle Spasms.
Since the first twitch/Fasic I knew something was wrong. The Neuro. is concerned that my symptoms and now test results are to coincidental to my brother. He has not said ALS. I realize now that with my brother having ALS is a part of family history. I fear it is.
What would be your opinion? View Answer |
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2008-04-07 |
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I have a son with a Dandy-Walker stand alone variant cyst. He is currently age 6 and the cyst was discovered during pregnancy. He has had no symptoms that I know of. Between age 3 and 4, he had five episodes of screaming, crying, kicking rage during the night, which he did not remember having the following morning. I did notice these episodes were at times of more fatigue and when more foods with sugar/dye where in his diet (i.e. birthday parties & holidays). Recently, he has started to sleep walk, and has even unlocked our door and walked outside in the middle of the night. Luckily, my husband or myself woke up when he did this and brought him back in. Could this be an effect of his Dandy-Walker? View Answer |
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2008-04-03 |
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Both of my parents have Parkinson's disease. My father was diagnosed a few yrs before my mother. There is no previous family history and they both grew up in the same city, Waltham MA. Do my siblings and I need to worry that we are at risk for this condition and would genetic testing be something to consider?
Thanks for your time. View Answer |
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2008-04-01 |
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Recently my nephew lost his second child to SMA at one month of age. He also had lost a son 2.5 years ago at three months of age.
I assume my brother and sister-in-law were carriers and I am wondering about being tested to see if I am a carrier too.
How much does it typically cost for this test?
I live near St. Paul/Minneapolis, Minnesota and would like to connect with a laboratory that does this work.
Can you direct me to a facility for this?
View Answer |
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2008-03-30 |
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Did the Elephant man have Neurofibromatosis? View Answer |
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2008-03-25 |
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I have a historyof ADHD,Bipolar, ASD SID,Dyslexia Depress,Glaucoma,color blind,cataracts, Alzhimers,Fibormoragia,MS. My son is 3 DX congenital pendicular horizontal nystagmus poor distance acuity,DX ASD. MRI shows some dysmyelination.He has been delayed since 1.5yr. Low tone throughout his body & been walking since 10 mon but still runs into walls. Express & recep lang is NOT typical.Still drools. Oldest bro a grade 2 interven bleed & cysist DX of Mild CP, ADHD, ASD. Sis ADHD, Dyslexia? Brother DX ASD, Little bro Dev.Delay My 3yr old son is a half sib. My neuro Dr.
advised a genetic test for Pelizaeus-Merzbacher disease because of the early nystagmus,unsteady gait, hypo tone, dev delay as well as sibs Neuro issues. I know I would be the carrier & since I have 3 OTHER BOYS THAT DON'T have nystagmus do you think this test is needed? Everything I read is of a severe form but I know there are mild forms but I am just not sold on this being a possibilty.Thank you for your time. View Answer |
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2008-03-24 |
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Professor Kim Nasmyth Research Group - Dept of Biochemistry Universisty of Oxford has written an article
titled "The mechanism by which chromosomal DNA molecules are held together:entrapment within cohesin rings?"Another article titled "How chromosomes split in cell division" My understanding of these articles is:The sister chromosomes are held together by little hooks and they have discovered an enzyme, which, when all 46 pairs of chromosomes come under tension, then and only then, this enzyme is activated and destroys the little hooks.Question:What if all the little hooks are not completely destroyed and they are causing the cells of myotonia sufferers to tear or split?What if the enzyme they have discovered (which break open the ring) activates too much of this enzyme and prevents the ring from closing properly-could this be the cause of the cell damage causing myotonia. Is it conceivable that drugs against the enzyme that break open the rings could be used for MD treatments. View Answer |
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2008-03-21 |
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Does a genetic relationship exist between Parkinson?s Disease, Myotonic Muscular Dystrophy and other neurological disorders? Both my brother and sister are severely disabled with adult-onset Myotonic Dystrophy. Both have children diagnosed with the disease when they were very young. A cousin, who died at the age of 14, is said to have been afflicted with Marfan Syndrome. Now our only living cousin has been diagnosed with Parkinson?s Disease. That four of the five in our generation should have, or have had, neurological diseases seems too much for coincidence. Your advice is most sincerely appreciated. View Answer |
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2008-03-17 |
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Hello there,
i suffer from the Myotonia congenita Disorder,lately it really got bad and i cant hardly walk,could you possibly tell me what kind of treatment or medicine could help me to get better as soon as possible.I am personal trainer and also everything i try to loosen up my muscles does not work,its very bad at my legs at the moment.So i would be very grateful if somebody has an idea about what to do in my situation.
Thanks View Answer |
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2008-03-14 |
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I am an Iraqi Freedom Veteran, and have been going thru numerous tests with the Veterans Administration, since my muscles are progressively shutting down, among other symptoms. Tests thus far have revealed multiple nerve damage in my arms and cervical spine. The past few weeks the same signs that presented in my arms, have now moved to my legs.
I know the statistics have shown that those of us that deployed are at much higher risk of acquiring this disease.
How do I find out if it is ALS, if all these test just show the nerve/muscle damage?
Do I have to go to a civilian doctor to be diagnosed?
thank you View Answer |
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2008-03-11 |
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My father died from Friedreich's ataxia. I have symptoms of the disease, which include slurred and stuttered speech, very poor balance, stiffness and pain in joints which cause me to fall a lot. I haven't been diagnosed with the disease because I don't have insurance to pay for the genetics testing. I have applied for disability 3 times in the past and have been denied. I went to see the disability Judge in September 2007 and the decision is still pending. While waiting for the decision to be made, my physical condition has and is worsening by the day. I have an 8 year old son whom I worry about, who might inherit this disease. I have been hospitalized twice back to back for depression from not being able to work and live an active life and provide for my son like normal people do. What are my alternatives, what should I do now, and is there anything else that I can do? Is there anybody I can get in contact with about my circumstances? Can and will you help me with my concerns? View Answer |
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2008-03-11 |
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I am a mother of a 5 year old with SMA type 1. My husband and I are starting to talk about wanting another child. We have an appointment to have our genetics done and are trying to go about everything the right way before we fully commit to having another child. I know that most likely our chances of having another child with SMA is 25%. What I was wanting to ask is it seems that one time I heard that there is a possibility that 5% or some percentage could be a mutation of a gene from one parent meaning that the other parent might not be a carrier. I know that it is not likely for our family but there has been no infant deaths on either side of my family for generations and there have been several on my husbands side. So I guess what I am wanting to ask is that true about the 5%? Thanks View Answer |
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2008-03-06 |
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My son 3years old Has been hospitalized twice for ataxia .Has hearing loss in one ear Facial apraxia . Speech delays. The neroligist just sent him for met. test his carnitine levels were95
carnitine free 80
carnatine esters 15
Could it possibly be cud?
we are having MRI w contrast MRA with sadation do I need to put him threw all these test If it is genetic? View Answer |
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2008-03-04 |
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I know of three cases of myotonic muscular dystrophy in my husband's family. I have read that it is autosomal dominent. His grandfather and grand father's brother had this disease as well as his aunt. His mother has one sister (which was affected). His mother is in her 50's and not affected. What are his chances of developing this disease since his mother is not affected & autosomal dominent? Is there any chance of him developing this disease? He is 29 years old. His aunt just died at the age of 52. His grandfather died at the age of 54 and his great uncle died at the age of 62. View Answer |
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2008-03-01 |
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is there a cure for Alzheimer diseases? View Answer |
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2008-02-28 |
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Can anyone make any sense of these strange symptoms and maybe point me in the right direction? My father has a tremor and all five of us children inherited it. At age 12 I was 4 foot 9 inches and weighed 49 pounds. Now at age 35 I am 5 foot even and weigh 98 pounds. I eat whatever I want, whenever I want, as much as I want and never gain any weight. I have had one medical problem after another my whole life. I seem to always have a high white blood cell count. My last two CBC's were 1400 after two days on antibiotics (February) and 1500 (in Sept). My hair is falling out. Putting my head under water (bathtub) causes nausea. View Answer |
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2008-02-26 |
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my son was diagnosed with duchennne muscular distrophy, i am due to be tested to see if i am a carrier, they would also like to test my son is this normal to test him as well as me? kind regards View Answer |
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2008-02-26 |
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my nephew has nerofibromatosis and he has a large tumor in the upper part of left side of chest which has spread to his left lung they say the tumor is inoperable does this mean that there is no hope for him. we are going to the cleveland clinic on march 7 to get second opinion. View Answer |
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2008-02-25 |
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what is it like for people living with huntingtons disease?
are support groups for this genetic disorder found in Oregon, USA? if so do you know where? View Answer |
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2008-02-25 |
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I have symptoms which led the neurologist to do testing for hereditary spastic paraplegia. The results were normal for SPG4 and NIPA1. The SPG3A varients were as follow:
DNA Varient 1: Transition G>A
Nucleotide Position: IVS6+7
Varient Type: Variant of unknown clinical significance.
My doctor said I do not have HSP but I am concerned. My mother had similar problems and my son is diagnosed with spastic cerebral palsy. My son and I both use wheelchairs. The report said that I should consider family testing, but my doctor just dropped the issue. Any suggestions or comments would be appreciated
View Answer |
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2008-02-24 |
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My mother has neurofibromatosis type I. She displays classic symptoms of the disorder. I am a 23 year old female and was never diagnosed as having NF-1, though I had a few of the symptoms; I have about half a dozen cafe-au-lait spots (mostly on my torso), had epilepsy as a child, and am of short stature. I also have a history of migraine headaches preschool until the age of 16. However, I have consistently tested as above-average for intelligence and do not have any visible subcutaneous neurofibromas.For the last two weeks, I've had mild headaches accompanied by spontaneous ringing of the ears and slight dizziness. These signs in my age range are classic symptoms of NF-2. Is it possible that the mutation for NF-1 can also spawn NF-2? It is my understanding that the genes responsible for each are located on different chromosomes. Could my mother have had both types of the disorder, or--if this is indeed NF-2--could it have just arisen independently? Thanks. View Answer |
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2008-02-23 |
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My sister, aged 51, has advanced myotonic dystrophy and is in a nursing home. My older sister died with it at age 47. Many family members have had or have it. My question is, would steroid therapy help her? View Answer |
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2008-02-20 |
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My daughter was diagnosed as having Leukodystrophy in December, 2006, when she all of a sudden started having seizures. Since then she has developed TIA's, both of which are trying to be controlled with medication. Her scans show calcification and cysts along with white matter deterioration. I haven't gotten a definite prognosis from anyone, even though I have gone all the way to The Netherlands, via e-mail to talk with Prof. Marjo van der Knaap. Still no one can give me anything definite regarding definite diagnosis along with any kind of prognosis. I was wondering what the best way to get this would be. I am just in the dark as to what is going to happen next and I am very frustrated. View Answer |
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2008-02-18 |
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My husband and my son have both been told that they have NF1. they both have all of the clasic symptoms, my question is,,, is there a connection with NF1 and learning disabilities? My son has been dignosed with A.D.H.D./O.C.D./ O.D.D. AND HAS EPILIPSY. As I have searched the web I have found studies of autism,looked at many of the symptom questions and my son fits most of the criteria for autism, could the NF1 be a facter in my son's "problems" ? Is there any conection with NF1 and severe behavioral or learning disabilities???? please excuse the spelling..... thank you for your help! View Answer |
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2008-02-18 |
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Hello- last year I was diagnosed with slowly progressing motor neurone disease at age 36. Recently my Hexosaminadase A and B levels have been tested and have been classified as "low but not deficient" on both occassions. My neurologist is investigating with a clinical genetics expert whether this might be related to my MND symptoms- hyperreflexia, spacticity, muscle weakness, mild atrophy of hand muscles, muscle spasms, fasiculations. We have not had a response yet. Could my symptoms be related to low levels of Hex A and Hex B and, if so, is there any treatment/ intervention? The neurologist mentioned Sandhoff's disease. Thanks- any thoughts/ opinion would be much appreciated. View Answer |
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2008-02-12 |
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My son is 13 years old and was having problems with his shoulder blade. We took him to a Neuro. specialist & did a EMG on him which came back with the possibility that he may have Charcot - Marie- Tooth. They want to do genetic testing on him but we are very concerned about Insurance coverage for him later in life and many other factors also. Is their some other test that can pin point this? View Answer |
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2008-02-11 |
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I have been diagnosed with Myotonic muscular dystrophy a few years back. Is it common to have severe muscle pain with this disease? I can't find anything on line about Myotonia and pain. View Answer |
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2008-02-05 |
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My 4 month old was diagnosed (but not MRI'd yet) for a spinal fluid pocket at the base of her spine. They are worried about an attached cord as well as the nervous system. I don't know if this is a genetic problem but I'm searching for help with her condition. Financially as well as information. She may need multiple MRI's troughout her life and possible surgeries. How detrimental is this? She appears to have normal fealing so far and strait legs (apparently without pain). View Answer |
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2008-02-05 |
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My brother, who is deceased, had Neurofibromatosis. the only manifestations I ever recall he had were tumors or bumps on his skin that were quite plentiful and noticeable. His daughter also has it, and now her 5 year old son has been diagnosed with an optic glioma. I, nor any of my other 7 siblings, to my knowledge, have ever had any signs of or been told that we have the disorder. Should I order my children or grandchildren be tested? thank you! View Answer |
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2008-02-04 |
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i have recently been diagnosed with a form of myotonia not sure which one,my dna is being anaylised and my question is it affects most of my body from head to toes. i have had to give up most of my jobs due my muscles paralysing and every day life is difficult even getting in and out of bed. the litreture highlights the condition does not worsen but mine has over a number of years, it has mentally and emotionly affected me, my doctor gave me a muscle relaxent which made me very ill and i now cant take any medication apart from headache/painkillers as i have panic attacks.can it affect muscles in the back as i have been suffering with my back as well with not much movement in my muscles, im so confused with it all please can you help View Answer |
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2008-01-31 |
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My daughter has been dating a boy who's mother has CMT, the mother has two boys(one being my daughters boyfriend) and either one of them have the disease, the boys grandpa, (the mothers dad) has the disease also, so my question is, if my daughter and her boyfriend were to have children someday would their children inherit the disease? View Answer |
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2008-01-30 |
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My father was diagnosed with proximal myotonic myopathy,I now am having muscle problems. How or who can I see to find out if I have this disease? View Answer |
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2008-01-25 |
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Huntington's is a disease that is in my family. It is on my mothers side of the family. Within the last ten yr's five family members have it, with two passing in there fifty's the last two yr's. Would it be advisable for the family on my father's side to have the gene test? As far as i know, there are no reported case's on his side. I am fifty four yr's old, and have two children, and six grand-children. Extremely concerned about this disease. Thank you. View Answer |
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2008-01-23 |
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My partner on his father's side have 5 cases of Mytonic dystropy. Niether my partner or his father have the condition (my partner is 23 but has not been tested to see if he is a carrier). My partner's brother has been tested and is not a carrier and has one son. I am only learning of this condition now and am obviously concerned for my baby. Is it at all possible for you to advice if there is a chance my baby will have this condition?
Please advice,
A very anxious expected parent. View Answer |
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2008-01-23 |
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I have Neurofibromatosis and just had what my doctor thought was a soar that healed wrong removed from the bottom of my foot. When he sent it in, it turned out to be a neurofibroma. I was worried that was what it was before it was removed. Now that the surgery has been done I know it will probably grow back. I was just would like to know how likely it is that it will return? View Answer |
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2008-01-21 |
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My husband may have Myotonic Dystrophy.His older brother was told that he had this disease.He died a sudden death of unknown cause at the age of 62.What I would like to know is if it is typical to have severe pains in legs and other areas from this disease? My husband has these pains and his brother and father both had them.He always refers to them as shooting pains. View Answer |
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2008-01-20 |
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Where can I find a center that will do genetic testing for periodic paralysis on my family? I believe my son has periodic paralysis and not myasthenia gravis and my niece was diagnosised with periodic paralysis. My son is 26 and my niece is 30 and in a wheel chair most of the time. I only know of one place in Germany that does testing for this disorder. Please advise.
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2008-01-20 |
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My 21 year old daughter is being tested for CIPA. She has all of the clinical symptoms. I am also an R.N. and a Medical Librarian. The geneticist told me that there are fewer than 60 people with this disorder in the U.S. She also said that it is rare for individuals to live to adulthood. I am trying to find out where these 60 people are and what the life expectancy is for my daughter.She is just finishing college and we want to give her the best opportunity for the future. I appreciate your help. View Answer |
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2008-01-17 |
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I am a 47 year old mother recently diagnosed with Addison's Disease. I have 2 sons, aged 6 and 3. My older son has had some difficulties in Kindergarten, including attention problems and academic difficulties, which we think are due to gross motor delays and sensory integration issues. These were diagnosed around age 2-3. Should I be concerned about my son(s) having ALD? Does my having AD make me a potential carrier of ALD or related genetic disorders? View Answer |
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2008-01-15 |
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I have Charco Marie Tooth. I am 53 years and am dealing with I guess is the normal loss of motor skills in my legs, and feet. I really noticed my ability to walk,run or stand for long periods of time were reduced alot after basic training . I had complained quite alot thoughout my military time, only to be told " I was young and my bones were still rubbery". From the time I went in till they decided to let me out I had lost quite alot of feeling and motor skills. My question; Could prolonged physical training, standing,running, etc. influence the progression of this disorder at early stages? View Answer |
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2008-01-09 |
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Can you tell me when Krabbe Disease was discovered? Also, by whom and how?
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2008-01-06 |
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HOW DO YOU KNOW THAT A PERSON HAVE PARKINSONS DISEASE ? WE LIVE 6 MONTHS. IN MEXICO AND 6 MONTHS. IN LOMBARD,ILL.-USA. I FILL THE SAME {BUT I TREMOR- ONLY SOME TIME AND I SOME TIME MOVE SLOW --SOME TIMES I AM NOT SURE OF MY STEPS-I FREEZE -BUT I DO NOT FEEL ANY PAIN-MY FAMILY SAY THAT I MOVE MY ONESIDE OF MY MOUTH{-LEFT SIDE}I AM TAKEING LEVODOPA\\\\CARBIDOPA AND BIPERIDENO-- 1 IN THE MORNING AND 1 IN THE NIGHT OF EACH -MED. PLEASE TELL ME IF I HAVE {PD} OR NO! View Answer |
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2008-01-06 |
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I am (male , 35yrs) having neurofibrometasis My daughter also have it. She is 3 years old ,I want to know when should I got her check up for any disorder. There is no apparent disorder in her. Bur As I have disorder in my left leg I am very worried ?
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2008-01-06 |
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Hello, to whom it may concern,Im curious about our narcolepsy panel results, my daughter, plus two sons that have exactly the same result as me. (only one son had a complete negative result). It goes like this: DR15 (2) DR16 (2) Dq0602 (1). That being said; I wonder if its a possibility my other son, who died in 1990 of sids, he was not tested for narcolepsy. I just found out two years ago I carry the gene. My oldest son has severe narcolepsy, cataplexy, as well as inherited bi-polar condition. Could sids death possibly be due to narcolepsy, the hcl level being to low in the brain? Also are these genes commonly linked to one ancestor? Thankyou for your time. View Answer |
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2008-01-02 |
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Hello,I would appreciate your opinion/advise on my own health situation. I am 29 years old, 17 years ago i had two surgeries and 6 weeks radiation after the removal of desmoid tumours on my upper leg. over the years i have developed many hard lumps on my legs not thought to be desmoids.this year in July i had a desmoid removed from my adomen, a mesh inserted which i reacted to which resulted in further surgery.the desmoid has returned in my adomen and bowel and the two of the lumps on my legs have increased dramatically. On the advise of somebody i am asking my consultant to test me for neurofibromatosis.
reading the information on webpages, i see other similarities ie; in early childhood i had numerous surgeries on my ears and have horrific eyesight. also have developed a dark skin blemish on my stomach area.
any advise is sincerely appreciated. View Answer |
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2007-12-30 |
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My sister's daughter has 4 children, 2 of whom have been diagnosed with Urea Cycle Disorder, probably OTC, and Leukodystrophy with vanishing white matter. Genetic testing at Mayo has been inconclusive and the diagnoses are based on the characteristic patterns (symptoms and MRIs) these girls, ages 5 and 3, are exhibiting. The results of the tests were abnormal, but not consistent with any known types. The mother and 3 year old also have Factor V Leiden. The boys were negative for hypreammonemia after protein load. (My sister has MS which is doubtfully related) Since the UCD is carried on the X chromosome, should my daughter and I be tested? What tests would be conclusively diagnostic (for UCD, LD,and Factor V)? How can we find out if we are carriers? Could her boys and my son also be at risk for late onset? Would you expect to see an appearance of these disorders in others in our family? (Our maternal grandmother had 11 siblings and nothing is evident in the successive generations.) View Answer |
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2007-12-29 |
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Is there a relationship between Muscular dystrophy and any of the following: problems with thyroid, turners syndrome, scoliosis, 'club feet' and being very small (not a dwarf, but under 1% growth rate)? All of these appear in a couple of generations of our family. View Answer |
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2007-12-17 |
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dear sir/madam,my son has been diagnosed with dmd. he is only 11 months old. i have been told there is nothing we can do at this early stage, such as receiving advice and guidance from an occupational therapist, is this right? can we not act now as he has no symptoms at present? i would be garteful for your reply thank you
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2007-12-09 |
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Hello sir,My daughter,9years old has an problem in walking.She is not able to put her ankles on the ground while walking. We have taken MRI scan of her spine , EMG ,CPK,muscle biopsy which shows normal ,that is conformed by neurologist doctor.Our doctor said that it may be a disease called HMSN. She has the problem for about four years gradually increasing.We are a couple who got married in relation. Our doctor conducted the EMG test again after six months and said that there is improvement in her nerves. I want to know whether it is a gene problem.I want to know whether there is any treatment for her. If there is any such treatment,please inform me through mail. View Answer |
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2007-12-07 |
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I am 18 years old and I have multi mini core disease. I have a mild form of this disease. I just have a few questions about it. I was wondering what the life expectancy is for someone with multi mini core disease. Also what I should expect when I get older. I don't have the respiratory problems, scoliosis, or the facial problems. I mainly just have a full body weakness. Also I have the non progressive form. If you have anything else to tell me I would be glad to hear it. View Answer |
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2007-12-07 |
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I work as a Neurology PA, and I was under the impression that neurofibromatosis being a genetic condition is only confirmed with actual testing to see if there is a genetic link on Chromosome 17. A recent visit by my wife, who is a nanny to two children suspected to have the disease, to a geneticist was told that it was a clinical diagnosis and that you did not need to be tested. She was also told that you could have neurofibromatosis and not have "neurofibromas". By definition, NF is the presence of neurofibromas. I don't see how a geneticist can tell someone not to be tested when it is a gene passed on by one of the parents (unless it is a spontaneous mutation of course), but with both kids being affected this is highly doubtful. I understand the clinical manifestations with cafe-au-lait spots, Leisch nodes, axilla or inguinal freckling, etc., but how do you confirm diagnosis and counsel patients genetically on whether or not they will transmit it to their offspring? View Answer |
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2007-12-07 |
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I would like to know if NF can affect results of a CEA tumor marker. I have an elevated one times two.The first was 3.2 in May 2007 at one hospital lab and now in a different hospital lab the result is 6.1. I have never smoked a day in my life or even tried a cig. I have NF 1. The reason the 1st marker was done is to abd pain since 2/07 normal ct scan, mri, 2 ^endoscopies and normal colonoscopy. Surg will be done 12-3-07.Thank you View Answer |
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2007-11-30 |
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Any known relationship for neurofibramatosis and scoliosis in the same person? View Answer |
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2007-11-29 |
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My brother (age 30) has been diagnosed with Becker's Mucular Dystrophy. My Dad has Belle's Palsey that never got better, so half of his face (forgot which side) is paralyzed (incl his eyelid) and I (age 36, female) have had two strokes from a cavernous hemangioma at the insection of the right cerebellum, pons and brainstem. The last stroke I had included surgery, removing the hemangioma, but after three years, I still have a lot of coordination issues (still can't walk) and other muscle issues suchas double-vion and others. (I am now drinking a lot of salt water-for sodium chloride reasons.)
I have read about paramyotonia congentia and it's mutation at SCN4A. Could this be it and if so, what more can we do?
Thanks SO much for your help. View Answer |
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2007-11-27 |
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WHAT EFFECTS DOES HUNTINGTON CHOREA HAVE ON A DNA PATERNITY TEST IF THE MOTHER OF THE CHILD HAS A FAMILY WITH THIS AS A HISTORY IN THE FAMILY View Answer |
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2007-11-27 |
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My boyfriend's mother has concerns about inheriting Alzteimer's. Her Father's sisters (9 total) had the disease later in life and all succumbed to it. Her father's brothers (4 total) never had the disease. She has two sisters who are as concerned as her. How can I help her? Are there any studies she and her sisters (and father) can enroll in? I was thinking that since something related to Alzheimer's runs in her family, can this family's genes be studied? Particularly where Alzheimer's affects women? Please let me know. I look forward to hearing from you.
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2007-11-26 |
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I am an international student in the state of Virginia,furthermore originally I am from Poland.
I am looking for information or further even help if this is possible.I have a sister who is 13 year old and a brother who is 11,both of them are very sick. Couple weeks ago we finally find out that the name of disease which is called Hallevorena-spatza other name Pantothenate kinase-associated neurodegeneration. I really do not understand a lot about this particular disease i know it is very serious and I am aware of it however I'm not going to give up on my siblings life because I love them SO much and my mother as well.My mother is a single mother,she takes care of them but that is not enough we are looking for help,for information what to do with this disease,moreover i do not know if they have a chance to be healthy.What kind a treatment exist and wherever you can tell me please.Where are the best clinics?
Please if You can help me somehow....I would appreciate it View Answer |
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2007-11-22 |
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I am working with a family whose child was diagnose with SMA II, the mother is expecting and does not speak much English? What are her chances of having another child with SMA? Is it very high? or her chances decreased because she already has a child with SMA? Father and mother are both carriers. View Answer |
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2007-11-21 |
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I'M SORRY FOR MY ENGLISH. MY HUSBAND 52 YEARS OLD HAS ALS(CLINICAL DIAGNOSIS OCTOBER 2006).MUTATION IN SOD 1 EXONE 4 ILE 113THR.I WOULD LIKE IF WILL BE A PROGRESSION SLOW OR RAPID. View Answer |
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2007-11-20 |
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my husband has distal muscular distrophy. what are the chances it was passed on to our daughter or that it will be passed on to future children? View Answer |
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2007-11-19 |
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DEAR SIRS, Iam 52 years old an 3 years ago found out i have friedriechs ataxia. i have severe ballance an want to ask you is there any treatment i need to be on. i take bacoflin for spasams severe, any hope or should i just forget any medicine soon to help,any expertmental help. also have 2 kids 17 an 11 should they be ok, no one else in familly ever heard of this View Answer |
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2007-11-16 |
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I do not have Alzheimers in my immediate family. Hoever, On my father's side of the family 3 of his 10 siblings have late onset Alzheimers disease..Usually starting in their 80's. On My Mothers side of the family her 1 brother had early onset Alzheimers at 63 yrs old. My question is how much at risk are my brother and sister and I for contracting the disease. Either early or late onset????? since we do not have it in our immediate parents. View Answer |
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2007-11-15 |
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Hello,My father in law have Steiner's Disease, I would like to know what kind of Tests should I do to know if my wife has the same disease.
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2007-11-14 |
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I am doing a report type project on Neurofibromatosis type 2 and was wanting to know the life expectancy on people who have this disorder? Can you help me please? View Answer |
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2007-11-13 |
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I have a friend whose father has Huntingdon's disease. I understand that he has a 50:50 chance of inheriting the disease but he has not been tested. He has two children. What are the chances of them getting the disease? I understand that they would be 50:50 if my friend has inherited HD but zero if he hasn't, i.e. the children each have a 25% chance as it stands today. Is this correct? View Answer |
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2007-11-13 |
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My husband and I have a child with Canavan disease. He is 3 years old. I have the most common non-jewishgenetic mutation. My husband has a mutation they had never seen before. Could you please explain to me how this happens? I dont really understand. Thanks. View Answer |
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2007-11-11 |
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Hello, how are you?
My sisters and I are diagnosed with Limb-Girdle Muscular Dystrophy 13 years ago. My waist, legs and shoulder muscles are very weak.
I am 31 years old, one of my sisters is 28 and the other one is 22.
My parents had familial marriage (they are cousins) and they haven't any kind of Muscular Dystrophy.
I know there are 13 kinds of Muscular Dystrophy in Limb-Girdle but I don't know my sisters and I suffer which kind of them.
I have taken prednisolone drug for one year. But it wasn't useful
Really can genetic test define kind of our Limb-Girdle? If yes. Although it is very expensive but we should do it certainly soon.
Do you know about genetheraphy? Has it done on any human? View Answer |
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2007-11-08 |
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My son and daughter both have Charcot-Marie-Tooth Disease. My husband has it as well. My daughter has a 6-month-old son with his 2nd and 3rd toes webbed. Her 2nd and 3rd toes are webbed as well. Is this an early sign that he also has Charcot-Marie-Tooth Disease? He can't be tested until he is at least 18 months old but I was wondering if the webbed toes are a symptom of this disease. View Answer |
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2007-11-08 |
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3 of 4 siblings from Italy were diagnosed with Huntington's Disease. All 3 suffered 10 to 15 years and died in their 70s. The fourth is an 85 year old female with no symptoms, and she has 2 sons aged 52 and 57 with no symptoms. Each of those sons has one son aged 15 and 17 years. What are the chances that the 15 and 17 year olds could carry HD? Can a person carry the mutated gene and not show symptoms? Should the teenagers get tested? Should the 52 and 57 year old fathers get tested? Thank you. View Answer |
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2007-11-02 |
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My father was diagnosed with Parkinson's Disease at the age of 48. I am now 23, and fear that I may be starting to show signs. When nervous, my hands start to tremble, and my left hand seems to always be soar. However, my symptoms may just be a result of more stress. I was wondering, do we know for sure if Parkinson's is genetic? I even heard that it may come from the mother's side. I hope to God this is true. Also, are there any treatments I can take part in that will help to avoid developing the disease? Please let me know. View Answer |
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2007-10-22 |
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My biological brother has NF-1. Noone else in our extended family was ever diagnosed or treated for it, although some exhibited symptoms. I would like to get tested to see if I am a carrier before deciding to have children. What type of tests need to get done and who performs them? Can I go to a general blood lab or does it have to be a geneticist? How much does the test usually cost? Also, would I be at risk of being a carrier for NF-2 as well or are they separate conditions? View Answer |
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2007-10-19 |
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I am a 29 year old male with a mild case of NF1. (Fully functional - very few tumors, college degree, full-time employment, physically active.) I haven't been to see a doctor about my NF-1 for over 10 years. How important is it for me to seek out a specialist at this age? Will the disease continue to mutate? If so, what should I be looking for? (The information I'm finding isn't very specific.) View Answer |
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2007-10-17 |
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My maternal grandfather had muscular dystrophy. His son, my uncle, had muscular atrophy. I have two brother, neither of whom have ever had symtoms (they are 55 & 65). I have a son, age 32, with no symtoms. I have heard different theories: it skips a generation, it shows up every 5th or 6th generation, we must have had the disease on both sides of the family for my uncle to have it too. Should I be worried about my son? What about my daughter, should she be concerned about having children? View Answer |
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2007-10-17 |
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I was born with brown pigmentation running up one leg and on my buttox. I never thought anything of it. I have a 4 and 2 year old. Over the last month I have had one spot and then another spot appear and grow the size of nothing upto and larger than a quarter, light brown in color, not raised. The one is just under my breast and then the other on but underside of my breast. I researched NF1 online. I have not seen a doctor yet. I have experienced Vertigo many times over the past 4 years after having my first son. Any thougths on NF1 or something else? View Answer |
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2007-10-14 |
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MY FATHER HAD Charcot-Marie-Tooth . WITH DROPFOOT AND THEN LOST USE OF LEGS. I HAVE BEEN HAVE TROUBLE SINCE I WAS EARLIE 30'S. MY LEFT EYE HAS TURNED OUTWARD AND DOWN. I PATCH IT SO I CAN SEE BETTER. WHEN I AM IN DARKEND ROOM AND THE LIGHT IS ON MY LEFT THAT EYE TAKES OVER AND THE RIGHT EYE TURNS OUTWARD AND DOWN. I HAVE NUMBING AND TINGLING SENSATIONS ON MOSTLY LEFT SID OF MY BACK. PAIN IN MUCHELS AND JOINTS. ACTIVITY MAKES PAIN WORSE.I WILL HAVE VERY BAD PAIN IN NECK AND IT MAKES PAIN GO AROUND NECK AND CHEST IF I MOVE MY ARMES UP OR LIFT THINGS. WILL CAUSE MIGRAINS. I CAN'T THINK VERY WELL AND I CAN'T REMEMBER THINGS CONFUSION.HEARING IS BAD. I GET LOST DRIVING VERY EASILY.BUT I'M NOT DRIVING VERY MUCH NOW SINCE MY EYE IS MESSED UP. I AM BEING TREATED FOR MAJOR DEPPRESSION. HAD MRI 2 YEARS AGO. SHOWED 2 SMALL LESSIONS. WONDERING IF ITS Charcot-Marie-Tooth ....AND WHAT I CAN DO ABOUT IT. View Answer |
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2007-10-10 |
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I had an older brother and a younger sister who both died of infantile neuroaxonal dystrophy. I was fortunately not born with this disease. What are the chances that I could be a carrier for this disease and if I could possibly give it to any children I may have? I also wanted to know if there is any way that I could be tested to find out if I am a carrier? View Answer |
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2007-10-09 |
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I have an aunt that is 72 yrs old. She has just been diagnosed with myotonia. She has talked with me and what her dr told her doesn't sound like the desease. Her Dr told her there were 4 types of this I've only been able to find two. Her Dr told her it can manifest itself anytime in life. Also her Dr went on overly sensitive reflexes, cant open your eye lids with the eye lid muscle after closing them. Hand freeze up and cant move it. What is the info on this disease and does this sound like the right diagnosis View Answer |
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2007-10-08 |
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my grandmother has alzheimers. her twin sister passed b/c of it a few years ago, she went quick (approx 4 years). my grandmother and her sister were the youngest of 10 children. not all their siblings had it. my grandfather has not had any symptoms of the disease at all. what are the genetics that transfer it? my grandparents had 3 boys, what are the probabilities that they will get it? there are 4 grandchildren. the grandmothers on the mothers' sides do not show any signs of the disease either? im just wondering so we can decide how best to treat the disease with my grandmother and, god forbid, anyone else in the family. thanks View Answer |
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2007-10-08 |
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I was diagnosed with Charcot-Marie-Tooth when I was about the age of 7 years old. My mother was also diagnosed with CMT as a child, she was the first in her whole family history to have the disorder, but passed it onto me. I wanted to know what the chances are of myself passing CMT on if I have children (which I really want to do)? Also if there are any options for me if I were to still want to have children and there is a chance of passing it on. Any information you could give me would be greatly appreciated. Thank you. View Answer |
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2007-10-06 |
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i am from rajasthan (india).i am suffering from sma last 7-8 years .its genetic disease now my younger sister also having problem in walking.At delhi hospital she also dignos with this disease. this time she do her all work . i just want to ask how can i stop her detoration so that she never depand on someone. please guide so that i can help my sister.i know its not cureable but can we stop it View Answer |
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2007-10-04 |
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My son 10 month old son has been diagnosed with Pachygyria and microencephally. I was wondering how rare is this disorder specifically when not lumped in with lissencephaly and other neuronal migrational disorders?
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2007-09-30 |
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my son was diagnoised with DMD yesterday. we are still trying to understand things. the lab report said: 4bd duplication of TGGA; nucleotide position 1563-1566 codon 523, and something about a full frame. This was found during the DNA sequencing, not the first part of the test, which I do not understand either. What does this mean? Also, everything I read is about a deletion, not a duplication, vs. a stop codon. What does this mean? View Answer |
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2007-09-27 |
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My daughter has had swelling off and on in her knees for several years with no real diagnosis. Now she has constant pain everywhere. While having gallbladder surgery, doctors discovered unexplained scar tissue inside her body. Now has calcium like deposits in ears and pain in her neck and headaches. Had CAT scan in ER found more dense spot in back of brain. Having MRI done in couple of days. Is there a syndrome that causes scar like tissue to form inside body that can cause these problems. Child complains of pain all the time. View Answer |
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2007-09-24 |
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Im getting married next summer, and my father in law has Muscular dystrophy. I am not sure which type. It started in his middle age. He is between 45-50 yrs in age (im not sure) and he has it bad enough that he cannot walk, use the bathroom etc., on his own. he can eat by himself but his hands dont function as they used to. He used to be really active until the onset of the disease, which Im guessing was about 13 years ago. His wife's side of the family has no history of the disease, nor anyone among relatives (in even very far related extended family) that has the disease, and my father-in-laws parents did not have it nor did any of their parents. I tried to look, but i did not find anything that said the mode of inheritance for the disease. Im wondering, what are the chances my fiance may get it (or his 2 younger brothers, currently ages 20 and 12). It won't change my decision to marry him, but I want to be prepared and alert for it.
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2007-09-21 |
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My father-in-law (age 64) has just been diagnosed with ALS. His mother died in her 70's of ALS. Does this make it FALS (Family ALS)? What are the chances that my wife and our two children will develop ALS? If this is FALS, but my wife does not inherit ALS, could it still be passed to my children and their children? Are there any effective treatments for ALS? View Answer |
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2007-09-15 |
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Should an individual who has a 50-50 chance of having Huntington's be an organ donor? Is their organs "safe" to be donated to others so others can live?
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2007-09-14 |
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Have been undergoing series of tests for over 1 year. I am undiagnosed. Age 60. Symptoms: neuropathy in both legs, tremors, problem with balance, obsessive-compulsive traits. Symptoms began 10 years ago. I read article about Fragile X Syndrome--FXTAS. View Answer |
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2007-09-13 |
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Hello, My husband and I had a daughter who passed away from SMA type 1 when she was 1 year old. We were genetically tested, and were found to be carriers. I am now 27 years old and for the past 4 years have been having alot of problems with my leg muscles, knees, hips and I also have tremors in my fingers when outstretched, I collapse alot and have spent some time in a wheelchair as my knees dont track correctly because of the muscle weakness... I have been told by several physios that my muscles and joints are very lax (loose). My question is: Is it possible for me to have SMA Adult onset even though I was diagnosed as a carrier? I hope you can help me, Thanks View Answer |
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2007-09-12 |
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Hello there,I have NF1 and had a question that I can not find an answer to. I would ask my PCP but he doesn't know much about NF. Is there any way to supress the NF gene on chromosome 17 from being passed down. I desparately want to have a child....our "own" child and know we would most likely have to do IVF with PGD. I just wanted to do it a more "natural" way...is there anyway to prevent or supress the gene? Thank you for your time. I am at a loss since there are not really and docs out this way that know about NF, which is odd since it is fairly common. Thanks again. View Answer |
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2007-09-07 |
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I have a few conditions.I have a tethered cord to L4 which was found last year after 10 years of back pain after a sporting injury.I also have been told by the last neurologist that I have myotonia congenita.I have an uncle that was told in 1970 that he had limb girdle muscular dystrophy,a great aunt with the same but not sure as to what type in either person.I also have 2 second cousins (brother and sister with myotonic dystrophy.I have a muscular type build but have a lot of weakness and pain which is aggravated by cold and physical activity.I also had a cataract at age 19 and was dx with another later at 45.I also have episodes of paralysis with slurred speech and vision changes.My GP was going to test me for myotonic but as it is very expensive I was wondering will that test pick up that you have a type of dystrophy or myotonia even if it isn't myotonic dystrophy?? View Answer |
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2007-09-06 |
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I have a son who will be 5 in a couple of months. I recently took him in for a doctor's visit where the doctor noticed my son had several cafe au lait spots (about 10) most small measuring about 5mm mark or less and a couple larger. He finally said that my son does not meet the criteria. Took him for a follow - up with his regular doctor and she was not overly concerned, but has referred me to a Neurologist. At this time he has no other symptoms, no freckling in armpits or groin, no lisch nodules, and no developmental problems. Is it possible to have this many cafe au lait spots, and not have NF 1? Everything I read basically says if you have more than 6, than NF 1 is most likely to follow. My husband has at least 3 cafe au lait spots and may have had even more as a child. No other history on either side for NF 1 or any other chromeosome disorder. View Answer |
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2007-09-05 |
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I hope you don't get too many repeats of this question as it was suggested to the Group to ask you this , what is the incidence of occurence of Lissencephaly, the rate I mean. And specifically, the rate of live births of Miller Dieker Syndrome, which my daughter has. My daughter is 6 yrs old. Also, I am the moderator of a yahoo group of families with children with MDS. You might be surprised how many join and how long some of them are living thanks to feeding tubes. They don't all die by age two , as I was told at diagnosis. There is one who is 24 yrs old in my group.
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2007-09-05 |
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My grandmother and two of her female children, my aunts died due to complications from HD. The offspring of one of my aunts is showing symptoms of HD. He is male, age 47. The other offspring has a young child with Neoblastoma, in remission. I'm wondering if the Neoblastoma has anything to do with HD and what should be done for the other offspring who is symptomatic. View Answer |
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2007-09-02 |
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My grandmother and two of her female children, my aunts died due to complications from HD. The offspring of one of my aunts is showing symptoms of HD. He is male, age 47. The other offspring has a young child with Neoblastoma, in remission. I'm wondering if the Neoblastoma has anything to do with HD and what should be done for the other offspring who is symptomatic. Is Huntington's disease gender specific? View Answer |
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2007-09-02 |
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I have Myotonic Dystrophy 2 and i know a lot about it now thanks to online medical sources, but i don't know what the experts mean when they talk about DM1 & 2 pathology being a "gain of function hypothesis".
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2007-08-31 |
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Hi, my grandfather on my father's side had Mytonic Muscular Dystrophy, and he had four children. I read that usually 50% of the offspring are affected with the disease. My dad is fourty 45, and he doesnt have any symptoms, but he hasnt been tested, and neither have any of his siblings. This disease is not present on my mom's side of the family. I was wondering if it was possible that I could have it even if neither of my parents do? Also, if my dad does have this disease, since im a fraternal twin, would this mean that in order for me to have it, both me and my twin sister would have to have it? I am a boy by the way. Thank you. View Answer |
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2007-08-25 |
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I have NF type-1. My question is what causes the neurofibromas to grow more frequently/quickly? I go through periods of time where I do not seem to acquire new fibromas, and then others where I seem to get a lot of new ones, and/or the ones I have seem to grow rapidly. Also, I am curious about the possible application of Thalidomide in the treatment of NF/prevention of the neurofibromas. I ws on this medication for a time, and while it may be coincidence, I did not get any new growths. View Answer |
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2007-08-24 |
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HI, We are a couple looking for further advice in relation to myotonic dystrophy my wife is a affected person and we wish to have children however i myself have only 15% healthy sperm count so we will be looking at private IVF or another other solution but want to know are there any ways of removing the gene so that our children do not carry or be affected by this condition and if there are any specialist clinics for this. View Answer |
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2007-08-22 |
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I have been diagnosed with AOA2 and have the SETX gene. I have had symptoms of brain fog and dizziness 24/7 for years. What causes thesesymptoms andis there anyway to alleviate these symptomms? I'm desparate.
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2007-08-22 |
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Do you have any information or have you heard of anyone having Duchenne muscular dystrophy & facioscapulohumeral muscular dystrophy at the same time? Why I am asking is that my 7 year old son has both. I also carry the Duchenne & have the facioscapulohumeral muscular dystrophy but show no signs. My son is extremely weak and has never walked or crawled. His doctors were very suprised with this finding and they have never heard of someone in my son's situation. If you could give me any information or would like to know more please contact me. Thank-you for you time. View Answer |
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2007-08-19 |
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I was wondering If couple had a child with SMA what would be the odds of the same couple having another child with the same disease (SMA).? View Answer |
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2007-08-17 |
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My mother is suffering for Huntington's disease.Is there any medicine on this?I know the fact that it is not cureble.But is there medicine to reduce the intencity? View Answer |
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2007-08-17 |
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I was wondering how rare is Lissencephaly. or LIS1 View Answer |
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2007-08-16 |
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What is the life expectency of Myotonic Muscular Dystrophy? My neurologist said it was time I quit work, and my insurance won't cover me unless there is a specific time I will live. View Answer |
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2007-08-13 |
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My cousins have some sort of genetic disease which the doctors cant seem to diagnose. When one of them went for an MRI - they said there was cerebrum atrophy.The specific symptoms are staggaring walk, muscle wasting, slurred speech, complete muscle wasting and then death. 1 male has the disease and 4 females. Onset is from 17 yrs of age and death in 2 of them ( female has been in their early 30s and mid 20's. What might this be? View Answer |
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2007-08-01 |
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My brother has NF2 and I am wanting to know what are MY chances of having a child with NF2 View Answer |
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2007-07-31 |
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Thank you for any aid you can give us, we are kind of scared. My husband's mother has myotonic dystrophy diagnosed 10 years ago (she is 50 years old). She is one of three daughters and the one who has developed the illness as well as one of her sisters (35) that has developed it on a very little form and has a child (5) which was born with it. Another sister tested herself and was told to have the gene, but has not developed. It seems that the affected gene was from their father. there's a history of the illness on his family. My husband is 29 and has no symptoms, but we are starting thinking of making a test to find out how is he likely to develop the illness and/or if he has the gene. What can you say about this probability? and where can we go at the United States to make these tests? Is it too expensive? We are really worried about this issue, because we have seen the damage on his mother and nephew, so we'll apreciate any comment. Thank you very very much. View Answer |
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2007-07-30 |
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Hello, I am graduate student in Biology at Idaho state university. I am working in field of sodium channels. I would like ask you, what are novel mutations discovered in sodium channel gene SCNA4 which cause Paramyotonia congenita and hypokalemic periodic paralysis?
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2007-07-29 |
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I have a condition that affects my abillity to walk in other word It causes Unsteadiness and Co-ordination, and Slurred Speech. I been told by my last Neurologist, "before he retired" that I had Cerebellar Ataxia. The symptoms are the same! The Neurologist said that I need DNA done to find out what kind of Ataxia I have, but I can't seem to get it done anywhere because no one will take my insurence card. And so do I have Ataxia and what kind do I have, and can I get my DNA done there? View Answer |
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2007-07-27 |
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What are the chances of passing on Parkinson's disease to a child if a maternal uncle was diagnosed with the disease in his 60s? He is the only family member known to have this disease. There is no history of the disease on the child's father's side of the family. Thanks so much! View Answer |
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2007-07-19 |
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I am a 68 year old female and concerned that I may have the beginnings of Alzheimer's disease. I sometimes forget what others tell me, what I have read or information I have seen on TV. Also, I sometimes forget where I put things in the house. Example: Two weeks ago I was having my home recarpeted and had to get ready for the carpet installers. In doing so, I picked up my three rings and put them someplace out of sight, to be "safe". Now I am unable to remember where that someplace is. I have searched for two days all the places I would thought I would have put them. Also, my grandmother on my mother's side of the family was thought to have had dementia in the 1960's. I want to be proactive so what should I do at this time? Thanks so much for your help. View Answer |
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2007-07-18 |
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My father has Charcot-Marie-Tooth(CMT) has been tested and diagnosed. I believe I, his daughter also have it , not been diagnosed as does my daughter, not dignosed. My question is about my father. He recently has been feeling unwell. The doctors are runing numerous tests, as yet they cant find a reason for these symptoms. hard to breath heaviness in the chest and clamy skin. I was wondering could this be his CMT acting up. Also does CMT kind of hybernate and then reawaken with new symptoms or a worsening of already existing symptoms. Thank-you for your time and look forward to your answer. View Answer |
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2007-07-09 |
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Our son, age 2, has been diagnosed with NF1. Our daughter, age 4, does not show any signs of NF1. If neither my husband or I have any signs of NF1 or on either sides of our family, how likely would be for us to have a third child with NF1? Could the NF1 gene be dormant within either of us? Thank you for your assistance. View Answer |
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2007-07-06 |
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I am a parent with Charcot-Marie-Tooth disease. As yet, I do not know the exact type of CMT disease. I am a 73- year-old male. My symptoms are: high arches, hammer toes, mild weakness in the lower legs and hands. I have two daughters and a son, all mature adults so far showing no symptoms of the disease. What are the chances of them developing symptoms later in life, and what are the chances of their children being afflicted with the disease? View Answer |
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2007-07-05 |
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my mom has nuerofibromatosis type 2. I was checked with an MRI brainscan 12 years ago and showed no tumors.. I have my dad's blood type .. are the odds good I don't have the disease.. I had a daughter 8 years ago and she doesn't exhibit any of the symptoms. View Answer |
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2007-07-03 |
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I have hemiplegic migraines and I have one little boy. I want to know how the gene is passed on will he have this disorder or will it skip a generation and go to his children. Should he marry outside our race to prevent this what can be done to stop this disorder from carrying on. We are European descent and his father is Russian/ Scottish do you see any way that my son will not be affected by this? What could I look into for support groups for myself and or my son if he is affected? View Answer |
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2007-07-02 |
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My mother had ALS and passed away in her early 40's. That was in 1960 and I was 5 yrs. old at the time. She had 5 daughters. Her sister (did not have ALS) had one son. Her son had 1 daughter and 2 sons. The daughter has no children but the sons had children. All males on my aunts side had ALS and have passed away except one grandson who had heart problems and has also passed away. My sister was diagnosed with ALS in March of this year. She is 54. Out of the 5 daughters and numerous grandchildren and greatgrandchildern no one but my sister have symptoms of ALS. My question is; Would it have anything to do with my mother having the disease and having only daughters vs my aunt having a son and not the disease? So far no one can answer my question other than to tell me it has been luck. I also thank you for answering my last question about the Factor 5. You have been very helpful and I do appreciate it. View Answer |
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2007-06-28 |
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Hello,I have a question about Friedreich's Ataxia. My Grandfather, Father, some uncles and a few Aunts all have/had this or some form of ataxia. I was wondering if my mother doesn't have a history of ataxia and my father has an avid history of the disease. What chance of having the disease or carrying the disease do I and my sisters have. There are five sisters in all. I would like some stragiht forward stats because the ones that I keep coming across are confusing or aren't addressing our case. View Answer |
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2007-06-26 |
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I am 22 years old , from my child hood i experience muscle stiffness when i hold on to a object for long time , i checked with doctor , he told that i have myotonia congenita . apart from muscle stiffness, during cold conditions (i.e) temperature below 20 c my muscles become partially inactive (i.e) i cant able to move my fingers or arms if exposed to cold for long time, and muscle stiffness also gets worse in cold condition.My muscles come to normal condition only after comming to a normal temperature(i.e) above 28 c .Is this symptom also related with myotonia or is it any other genetic disorder?. my mother also has these same problems.please help me with a solution... View Answer |
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2007-06-22 |
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Both my mother's father, and my father's aunt have been diagnosed with Alzheimer's after the age of 65. What does this mean for me and my child? Is there a screening method available? Thank you. View Answer |
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2007-06-13 |
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Hi. My child is being mointored for neurofibromatosis He has six- cafe-au-lait patches, several smaller ones. As yet he is 9. He does not have freckling in the underarm or groin. He does have a mole in his underarm and 2 moles in his groin.A large head and a similar behaviour pattern could the moles be the same as freckling? View Answer |
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2007-06-07 |
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My father died of early onset Alzheimers at 70. However, we started to see the signs at the age of 60. I am now 42 years old male and have been noticing that my short term memory is getting really bad. What type(s) of tests are performed to find out if I might have inherited Alzheimers? Are they blood tests? Do I go to my family doctor to have my blood tested? Should I have my son (age 5) and daughter (age 3) tested? Please help me!!! View Answer |
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2007-06-07 |
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I was wondering if depression has anything to do with NF1. I have not been to the doctor to be diagnosed but I know I have some sort of depression problem and don't really know if i need to see a regular Dr. or a Neurologist. View Answer |
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2007-06-06 |
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I have been diagnosed with hereditary motor neuropathy. I am currently on medication for pain. I am wondering what else I might do to help myself? I am exercising qd is this a help or hinder? Any information will be helpful. Thank You. View Answer |
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2007-05-21 |
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Bilateral perventricular nodular heterotopia is past from mother to child. So does thats mean if my son has it I gave it to him and I have too? View Answer |
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2007-05-18 |
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I am a 62 yr. old female recently diagnosed with Myotonia Congenita-very mild. I think doctor came to conclusion it was Thomsen's from conversation we had but in actuality, we spoke very little about family history. Both my parents are deceased. I told doctor my mother had a lot of aches and paining of muscles perhaps with some weakness and that my sister had a lot of muscle pain. I did not recall any symptoms from my father. No testing done on mother. Two of my EMG's came back irregular and a DNA test revealed quite abnormal chloride channel gene sequence-CLCN1 gene. There were 5 abnormalities. One particular mutation is associated with recessive form of MC. The recessive variation with 1 or the other variations of unknown significance is producing a mixed recessive abnormality. Wouldn't this suggest I have BECKER'S form of MC and not Thomsen's?? In looking back at my office visit with my Neurologist, I may have downplayed my symptoms. They are little by little gettig worse (aching, pains, occasional muscle weakness). Thank you for your help. View Answer |
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2007-05-10 |
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i have sharp shooting pain in my feet and was just wondering if that could do with my neurofibromatosis View Answer |
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2007-05-09 |
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is it possible that hd skips a generation? my dads grandad died of it,also his dad, his brother and nephews too. my brother is suspected of having it and is being tested, my dad didnt have it as he died at 79 from other causes, View Answer |
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2007-05-09 |
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My father had two brothers to die from Duchenne's. He had one sister that was a carrier and she had a son who died from the disease as well. Since my father did not have the disease, does that mean that I am not a carrier? View Answer |
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2007-05-06 |
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Sir,My daughter is 4 years of age and her walking style seems to be abnormal as compared to others. We examined thoroughly through ortho and then referred to Neuro. After having conducted so many tests we found her peripheral neuro system is very weak and also she is having very very thick Dense (kinky) Hair and Curley texture also with curley Eye lashes. Now the Doctor is dubious over Giant Axonal Neuropathy Ofcourse we havnt taken the Nerve Biopsies which we are planning to take eventually. Sir, My sincere question is do we have any remedial measure to cure this disease.Is this Life Threatening,will it affect the longivitiy of the Child ??? Kindly Clarrify - Thanks View Answer |
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2007-04-29 |
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My father was just diagnosed with Lou Gerhigs Disease. He is only 66 years old. I fear that I could could be a carrier. And could potentially pass this on to my children. So far I have no symptoms. I would like to be tested privately(not through my insurance). Is it very costly to be tested? Is it possible that there is a link to my father having this disease to the fact that his parents were 3rd cousins? How far away are scientists to finding a cure for this? Could my son's stem cells that we banked last year potentially help us if I or my children have ALS? View Answer |
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2007-04-27 |
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My father has been diagnosed with Huntingtons Chorea and has been under professional care for approximately 10 years. I am a 35 year old female and show no symptoms that he has nor any that I have researched online. And there is no other family history of this disease known to any living family member.I currently do not have insurance and wonder if I decide to take the genetic test will the results be of public record? Specifically, once I get insurance again will the results be presented to the Insurance carrier? Also is there an age deliniation for starting to see signs of this disease? View Answer |
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2007-04-26 |
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While I am absolutely healthy, my brother suffers from Muscular Dystrophy (becker). No other member from my maternal or paternal side suffer from this, therefore no past history. What are the chances of my kids bearing a problem of similar nature? View Answer |
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2007-04-26 |
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My 20 year old daughter has developed in the last year about eight cafe-au-lait spots on her upper abdomen. She is at college and we can't get to the doctor for a few weeks.As I research these spots, it send me to neurofibromatosis-1 sites.Is there something else I should be mentioning to the doctor, or looking into before our visit.
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2007-04-25 |
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Hello: I have neurofibromatosis type 1, Mostly the cutaneous aspect of it, no neurological involvement. I have many freckles, especially facial freckles. I have heard about new treatment using different kind of lasers, I have yet to find any dermatologist that is aware of there kind of treatment. I have this huge dark black circle of freckles around my mouth and scattered freckles all over my face, any recommendations about treatment. View Answer |
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2007-04-23 |
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I have been diagnosed with SMA Type 3 and have lead a fairly normal life, married, two children, etc. Neither of my sons has shown any symptoms of disease, but my youngest son is married and expecting their first child in November 2007. This has raised many scary questions for them. What are the genetic risks for their children? Does the risk decrease each generation beyond the initial affected person? View Answer |
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2007-04-16 |
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My question deals with statistics and recurrence of AVM's. The most prominant data shows it affects about 12% of the population; primarily hispanic origin. Do you have any recent statistics on what percent of those hemmorage and what are of white origin? I also want to know, of the congenital type, if you are born with a set number of AVM's or can you develop more over a lifetime?
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2007-04-13 |
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My father has Becker's Muscular Dystrophy and I am his son. Is there any probability whatsoever that my daughter would be a carrier passed through me? View Answer |
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2007-04-12 |
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What is the chance of my getting prion disease, Creutzfeldt-Jakob Disease, if my father was diagnosed and died of it in 1971? I understand 85% of the cases are ascribed to sporatic (somatic) mutational changes in prion protein, and perhaps 15% to genetic / familial / germline mutations. Am I at increased risk if one blood relative (father) got the disease? View Answer |
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2007-04-05 |
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my sister and her son have facioscapulohumeral disease he has had it since birth but found out at age 8 my sister is 36 found out at age 33. Is there a link to choctaw native americans with this? We do not know of any other cases in our family. Only unkown area is the choctaw link.any information you can send me will be very helpfull. thank-you View Answer |
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2007-04-05 |
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Hello,I am associated with a hospital in India as a trainee. Recently, we came across two cases of Hereditary spastic paraplegia in patients who are also brothers. Being a developing country we don't know how to approach this condition.The patients came to us from Afganistan with hope. Unaware of the proper genetic testing to be carried out, We are asking your reknowned organisation for help. If their samples for genetic testing are required, we are ready to send them A.S.A.P As, we are all on a mission for the benefit of mankind...kindly guide us. View Answer |
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2007-03-27 |
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My father was diagnosed with Early Onset Alzheimers at the age of 54. He has progressed into the disease, and on a daily basis I worry about having the disease--or passing it on to my children. And, I worry about my siblings. My questions are...what are the statistics of inheriting this...I know Early Onset is genetic...but what are the odds...does it diluted by generations? Also, could I be tested for it now? If so, what kind of tests would they run? View Answer |
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2007-03-25 |
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Hello,I am a 29 year old woman and was diagnosed with CMT about 10 years ago. I have noticed in the last year that the muscles at the front of my legs seem to have deteriorated. I assumed it was just the back of my legs that would get worse. Is there any way to slow this process down? i.e. cycling, stretches, etc. Also, my partner and I would like to have children but I have heard that pregnancy can speed up the deterioration of muscles. Do my children also have a high chance of having CMT as well? View Answer |
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2007-03-23 |
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I am a desperate stepmother of a 42-year-old son who has been diagnosed with myotonia dystrophica. His twin sister passed two years ago Xmas, his eldest sister, who showed no signs of any disease, died in her sleep in the early 1990's. Right now he is relatively stable and can take care of his personal hygiene and is ambulatory. He is in a nursing home and I want to bring him home. I notice when he comes home on weekends, he thrives--he eats well, gets along well with me and is probably as happy as he is capable of being. I saw somewhere that there is now some sort of medical treatment for this disorder. I love him as if he were my own, I would do anything to get him out of that nursing home where I know he is just sitting waiting to die. I'm a cancer survivor x's 3, out six years. Do you know of any medication that would be available to him? Every night when I pray, I cry--he's a total joy to me, and his father says if I bring him home, he'll leave. He has never really known his father--but that's nothing new. I've discussed all of this with him and, never having had a home, he said he'd rather be with me and his step-brother anyway. He'd rather die with people who love him. View Answer |
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2007-03-18 |
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I'm wondering whether some of a number of, at first sight, individual problems could in fact be related to my Myotonic Dystrophy. For example, suddenly decayed teeth, extremely dry eyes which are not helped by tear duct plugs,a recent tremor when trying to hurry and then do something needing still hands, hypoglycemia, endometriosis, legs that swell with prolonged standing, the beginning of clawed toes (blisters, callouses, etc), Raynauds, incontinence. I won't go on, but it's hard to believe that one could have so many separate conditions. There is Graves disease and other auto-immune problems on my mother's side of the family.I am now 60, but some of the muscle weakness goes back to childhood and I was too weak to continue my beloved career at 40. View Answer |
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2007-02-28 |
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I believe I have a neurogenetic disease, inherited from my father, who was supposedly adopted. I am a 31 year old woman. I have a brother and sister with some symptoms. I have been tested for MS, RA, and diagnosed with "fibromyalgia." The RF was positive once, all other tests have been negative. Symptoms: Severe, localized hyperhidrosis and edema of the hands and feet since infancy. Severe burning of hands and feet, alternating with numbness, swelling, edema. Joint and muscle pain. Lost feeling of index finger and thumb in right hand in 2004, never completely regained all feeling. MRI shows abnormalities of hands and wrists, possible tears and erosions, docs guess sero-negative RA; was sent to specialist in Houston...with not much to say. Right foot becoming deformed. Severe flat feet, foot cramps, pain when walking. Left shoulder goes numb and starts tingling, shocking me periodically throughout the day. Severe back pain when sitting, curved-in spine, sister has scoliosis, brother had foot deformities at birth. We all inherited mental illness from Father, brother has schizophrenia, sister and I have BIpolar I. New Symptoms: hands, forearms becoming increasingly numb, weak. No muscle left on upper arms. Feet, lower legs becoming increasingly numb. Clumsier and clumsier. Loss of balance, dizziness. Stiffness, especially upon waking. Chronic all-over pain, fatigue. I have always believed there was a correlation between sweating and neuropathy. I am progressively getting worse. Father died at age 46 of heart attack, artery blockage. I was diagnosed with PCOS, then had a baby girl who developed the hyperhidrosis of hands and feet at approximately 3 months of age, at around the same time my mother says I did. I am in pain management now and about to have nerve conduction tests. So fra, I have come across CMT, HMN V on the internet. Do you know of any other genetic disorders involving loss of mobility, pain, burning, sweating of hands and feet? Please let me know. View Answer |
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2007-02-26 |
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I have 2 sisters, 1 neice, 1 cousin, and 2 daughters that have been effected by cerebral cavernouss Hemangioma in my family. All females. I'm wondering at what age should my 5 year old be tested for this. When asking her doctor he acts like I'm crazy or exagerating. But the results of this has been devestating for some and some live on medication, some have surgery, different symptoms yet the same symptoms.What age is safe to test for this condition? View Answer |
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2007-02-24 |
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I am pregnant for the 7 th time. I have nf 1 a mild case. we have to date used cvs testing. we have one child. I am really questioning if cvs is the right thing to do. I really really eally dont want to go through this all again.... ironically this pg was accidental in that my husband and i were awaiting a frozen transfer of our PGD'd embryo. we have had 4 affected pg's and an early m/c. View Answer |
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2007-02-21 |
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My Grandfather has been recently diagnosed with Classic Cruetzfeldt-Jakobs Disease and I have read that it can be sporadic or familial. Is there a sure way to know which it is? Is this something that the doctors should be finding out and telling us? Up until now that have continued to side step the issue. Thank you for your time.
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2007-02-20 |
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I have CMT. I am the only one in my family with the disorder and I am 47. My 20 year old son is having problems with high blood pressure and the doc thinks it might be related to his kidneys. Here is my question. My mom remembers having counseling at the MDA clinic when I was a child and they told her that the same chromosome that causes CMT causes kidney problems. She was told if the person did not get CMT they could get the kidney trouble instead. Have you heard of this?? Both my sons were tested for CMT as children and so far nothing. I just wanted to see if this might be the same chromosome affecting my son. View Answer |
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2007-02-19 |
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Hi, My Mother has been diagnosed with familar tremors that are in her head,voice box and throughout her body. My half brother and half sister and myself are all developing tremors and at various stages in the way it effects us. We have a maternal cousin that has neurofibromatosis 2. My brother has cyst but not the coffee spots. My Mother and I have difficulty walking and an and unusual gait. I recently had a genealogy dna test HVR1. I have a sixth mutation that no one else has. These are my mutations does this give you any info about my health?
HVR1 Haplogroup U2 HVR1 differences from CRS. View Answer |
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2007-02-17 |
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Two of my siblings died at age 3 yrs and 11 yrs. Both had profound muscle weakness and could not walk. The eleven year old could only say single words and used his own words ( created words of his own) He seemd very intelligent though. Neither of them had a diagnosis as they lived in the 1950s in India. My parents have adult onset diabetes. Dad had renal glycosuria for years, before his blood sugars became elevated. He had no muscle weakness. My brother now 53 has adult onset diabetes and generalised mild muscle weakness. I have difficulty rising from low chairs, cannot get up from floor without help, my arms get tired when reaching over head. I had cataracts in my early 40s. I also have adult onset diabetes and hypothyroidism. My 3 daughters have hypersomnia and depression. They are always tired. One has epilepsy. One was just diagnosed with sleep related breathing disorder. We all have frequent headaches.I am not sure where to begin, where to seek help for diagnosis. View Answer |
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2007-02-17 |
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My husband's family have epilepsy. His grandmother and father had mild seizures but led a productive life. My brother-in-law has tonic clonic epilepsy along with developmental issues. He is seizure free for the past one year. I want to get pregnant but I am terrified. what are the odds that my child will be normal???? View Answer |
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2007-02-13 |
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I want to know about the disorder that affects me, I am suffering from a genetic disorder that affects my life. It causes my muscles weakness. And this weakness is progressive. It more affects my shoulder and leg muscles. It also affects form of my body. Fortunately disorder can not yet completely disable me and I am following my normal life. But I don?t want to get married until I know about my disorder and become sure this can not cause big problems for me. I know it has genetic roots, because my father and my aunt also have this disorder. I had not known about my disorder until 16. But then I saw some deformations in my body, especially in my shoulders. I want to know what my disorder is. This disorder has any treatment? Can I marry and have children? And some other questions that if possible I would ask later. View Answer |
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2007-02-10 |
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silly question probably, I'll ask anyway. My husband's paternal uncle has Huntingtons, it is probable that he received this gene from his father who died young. My husband's father (his brother) died recently at age 64 with no sign of Huntingtons. My husband is obviously concerned that he carries the gene (and that our son may also). We are in two minds about genetic testing. Are there any stats around percentage of siblings who inherit the gene alongside another sibling who is a gene carrier, or is it really just a 50/50 chance? Also, could we have hope in that my husband's father was 64 when he died from cancer and had not shown signs of this disease? I am a really scared mum and wife and really looking for some reasons not to have the genetic tests. Please help! View Answer |
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2007-02-09 |
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I am a 35-year-old with symptoms including movement disorder (sometimes looking like nonepilectic seizures), slurred speech, trouble walking, depression, and irritability. I saw that Huntington's Disease fits all of these symptoms. Neither of my parents has the disease, but I read that if my father were to have a premutation, I could still have the disease. What do you think the possibility is that I have Huntington's? View Answer |
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2007-02-08 |
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Is Diffuse Lewy Body disease a genetically connected illness? My wife was diagnosed with this illness in 1996 and died in 1998 from resulting health failures. The diagnosis was confirmed after death by autopsy of brain tissue. Her mother and one sister died earlier with diagnoses of "dementia", but not specified as "Diffuse Lewy Body" disease. Another younger sister was diagnosed with dementia, but still lives, in a care facility - four years after initial signs of mental illness. We have six children, twelve grand-children and I worry that this terrible illness may appear in their future. Will appreciate any information you may provide. View Answer |
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2007-02-02 |
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Hello doctor. I just wanted to ask yous omehing. My grandmother died of ALS last year, I was with her at all the stages of her disease, I think it ?s the worst disease I have seen in my life, I am very concerned, since I am the eldest of her grand children, Am I in some sort of way pre disposed to have the disease ? sometimes when it ?s hard for me to swallow or when I have cramps I worry a lot, I am 24 years old. I would love to get your answer since I am very concerned. Thanks a lot. View Answer |
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2007-01-29 |
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i have a Distal Heredetary Motor Neurophaty V. I just read that it will affect the nerve in my spinal cord and so is my hands etc...i just want to know if there's something that i can do to preven it? or something that it will stop affecting the nerve in my spinal cord? If the nerve on my spinal cord is already affected, can i still walk? can i still do the things that i used to do? will it affect me that much? i really need the answer. View Answer |
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2007-01-29 |
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Our 17 year old son has Duchenne Muscular dystrophy. He has a younger brother (14 years old) who has never presented any symptoms of Duchenne. We have been attending MDA clinics with our older son since at least 1996. He is under the care of a cardiologist, neurologist and pulmonologist, as well as an orthopedist.At age 31/2 the 17 year old's diagnosis was confirmed with a muscle biopsy and genetic testing showed his deletion to be exon 45. Later, in 1997, my blood test (gene analysis done at Baylor College of Medicine) showed no deletion. At that time the neurologist told us that that was great news for our younger son, and we assumed he was fine. As recently as a year ago I discussed the testing of my blood with the MDA geneticist, and he said it was a valid test, and we discussed the mosaicism and the 14-20% chance of our daughter inheriting from another affected ovary...I have been reminded of that risk several times. There is still no sign of DMD in our younger son, but at a recent visit to an orthopedist I was (randomly) asked if the 14 year old had ever been checked. I was rather shocked at the question, as was my 14 year old. Well, the answer to the question was, "no" because we were under the impression that that worry was in the past. It was suggested that we should have him checked...based on what, the doctor didn't say. My question is: Is it possible that a brother of a boy with Duchenne could have the less severe form of the disease (Becker MD) because of factors such as maternal gonadal mosaicism or some other factor that I have missed in my long but less than complete, parental education on this disease? I can find no reference to this in any studies or info I've researched online. I am trying to find out if there is need for concern without unnecessarily burdening my younger son with worry. He has seen what this disease can do, and it was thoughtless enough of the orthopedist to blurt the question out in his presence.I know you will probably direct me to talk to our geneticist, but any helpful info you can offer would be appreciated. Thank you very much. View Answer |
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2007-01-20 |
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I recently found out through a DNA test that i have CMT with the MPZ gene being abnormal. I have weakness in my legs, burning sensations, vibrations, feelings of feet being asleep,etc. I also have some small issues with my hands at times. My question to you is, what does the future look like for me. I am 36 years old and also have chronic lyme disease. And whatr type of CMT do I have? View Answer |
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2007-01-16 |
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My son suffered from seizures at only 8 months of age. He was diagnozed with a cavernous malformation which he was able to have surgery for. He is now 3 years and is doing good except for his developmental progress he is behind in all areas speech, motor,etc... I was tested for fragile X syndrome after a psychiatrist who saw my son suggested we do so, in order to find out the reason for my sons delay. Results came out negative. Now im reading that this malformation can be inherited but neither my husband nor I have a family history of any kind of problems. Is there any other genetic tests I should think of doing?. Would mutations in those genes (CCM2,KRIT1, & PDCD10) that causes a cavernous malformation can also cause some kind of developmental delayness.? View Answer |
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2007-01-16 |
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I am a 19 year old female with NF1. I was diagnosed as a toddler, and have had no serious problems until recently. I was placed on Thalomid/Thalidomide and recently taken off as I was just diagnosed with CIDP as well. What is the infertility rate with "average" NF1 patients, and if the condition worsens does it decrease your fertility? Thank you. View Answer |
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2007-01-14 |
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Respected sir - I am a PSG college of technology student .I am doing biotech course. i have a doubt ,For canavan disease , if we provide aspartoacylase enzyme externally in blood ,will it take the enzyme or not ?.not means why ? suppose blood absorb enzyme ,it will breakdown the n-aceetyl -aspartate. I thing,this is silly idea.but i like to know about this,what will happen ? if we send the enzyme in bl |
