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.
These disorders (myotonia congenita, paramyotonia congenita, periodic paralysis and central core disease) are sometimes called channelopathies.
Myotonia congenita Paramyotonia congenita Central core disease Nemaline myopathy Myotubular myopathy Periodic paralysis