Guest guest Posted February 2, 2005 Report Share Posted February 2, 2005 Hi, my name is . About 10 years ago, my father was diagnosed with CMT, but I don't believe it was through a blood test. He has the pain and numbness in his feet and legs, the hammertoe (which he had operated on), high arch (when he had flat feet his whole life), drop foot, muscle atrophy, poor balance, hand tremors, etc. About 3 years ago, my 2 sons were diagnosed with Fragile X Syndrome, the leading cause of inherited mental impairment. Shortly after receiving this diagnosis, researchers discovered that about 20% of the grandfather male carriers of Fragile X were suffering from symptoms similar to CMT - tremors, neuropathy, poor balance, cognitive loss, etc., all of which get worse over time, with most eventually losing the ability to walk. The condition is called FXTAS. A few months ago, our family participated in a research program for Fragile X and FXTAS. The doctors there were very interested in my father's case because he has so many more symptoms than their other participants. They think that he may have both FXTAS and CMT. They are both X-linked disorders, and apparently very closely related. I have been reading your posts, and I have seen some characteristics that I have noticed in myself - Pain in my feet upon rising from bed that goea away after walking around for a little while, difficulty swallowing (at times), difficulty breathing when lying down (which I always attributed to my sinuses), occasional tremors in my hands, fatigue after exercising. I have always marveled when I hear that exercise is supposed to give you more energy. I struggle to stay awake for the rest of the day after I exercise. I don't have terrible balance, but I have never been able to walk in a straight line. When I walk with others, I usually walk into them. I have had pains in my legs that I have compared to migraines my whole life, but advil and heat cure them. I welcome your feedback. I am also interested to hear if any of you have any developmental disabilities in your families - including learning disabilities or more severe impairments, speech, fine and gross motor delays, autistic behaviors such as hand flapping, hand biting, perseveration, OCD, ADHD, difficulties with transitions and unexpected changes. Quote Link to comment Share on other sites More sharing options...
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