Hi, son of my very good friend (4 years old) was diagnosed with Myotonia congenita. His eyelids, hands and legs, and soon every muscle on his body has started to enlarge. This abnormal muscle enlargement, so called hypertrophy resulted in a body builder like appearance of a 4 years old boy. I was wondering does anybody know anything about the treatment options?
Hi, I`m familiar with that disease. It`s a rare genetic disorder and there are two main forms of MC, Thomsen and Becker disease. Son of your friend probably have Thomsen disease, because that illness affects muscles of the eyelids, hands and legs. The symptoms of Thomsen disease may appear from infancy to two or three years of age. Many persons with MC learn to live with their disability. The boy should also avoid the cold as much as he can. Cold is bad when you have MC. There are also some meds. Mytonia congenita can be relieved by, for example, mexiletine.
hi. i have the disease. i am 14 years old. i have learned to just live with it. and there are some drugs that work for some people but not others. so i dont take any antibiotics but i just live with it