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Myotonia Congenita Synonym(s): Reviewed 11-08-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Myotonia Congenita?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Myotonia Congenita? Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise. Is there any treatment? What is the prognosis? What research is being done? National Organization for Rare Disorders (NORD)
Muscular Dystrophy Association
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