myotonia congenita


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Noun1.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
References in periodicals archive ?
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
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.
We investigated the genetic variants of MR-1 , SLC2A1 , and CLCN1 , which are the causative genes of PNKD, PED, and myotonia congenita (MC), respectively, in these cases.
There are eight inheritable myopathies: central core disease, myotonia congenita, paramyotonia congenita, myotubular myopathy, nemaline myopathy, hypokalemic periodic paralysis, hyperkalemic periodic paralysis and normokalemic periodic paralysis.