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Noun

myotonia congenita - a mild, rare, congenital form of myotonia characterized by muscle stiffness

myotonia - abnormally long muscular contractions; slow relaxation of a muscle after a contraction

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References in periodicals archive

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Keywords: myotonia congenita, myotonic dystrophy, Becker myotonia, chloride channelopathy, SSCP.

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Treatment: Someone who has myotonia congenita can lead a long, productive life, and can even excel at sports where strength is more important than agility.

Facts About Myopathies

These disorders (myotonia congenita, paramyotonia congenita, periodic paralysis and central core disease) are sometimes called channelopathies.

Facts About Myopathies

Myotonia congenita Paramyotonia congenita Central core disease Nemaline myopathy Myotubular myopathy Periodic paralysis

Facts about amyotrophic lateral sclerosis

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