Myotonia Congenita Information Page
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What is Myotonia Congenita?
Is there any treatment?
What is the prognosis?
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 mainly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise.
Is there any treatment?
Most cases of myotonia congenita do not require treatment. Sometimes, however, symptoms of the disorder may be relieved with quinine, phenytoin and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may be used to help muscle function. Genetic counseling is available.
What is the prognosis?
Most cases of myotonia congenita are nonprogressive and relatively nonlimiting. A precise diagnosis allows physicians to distinguish mild myotonia congenital (also called Thomsen type) from the more severe form, called Becker type.
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