paramyotonia congenita

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paramyotonia

 [par″ah-mi″o-to´ne-ah]
a disease marked by tonic spasms due to disorder of muscular tonicity, especially a hereditary and congenital affectation.
paramyotonia conge´nita a condition similar to myotonia congenita, except that the precipitating factor is exposure to cold, the myotonia is aggravated by activity, and only the proximal muscles of the limbs, eyelids, and tongue are affected.

con·gen·i·tal par·a·my·o·to·ni·a

, paramyotonia congenita [MIM*168300]
a nonprogressive myotonia induced by exposure of muscles to cold; there are episodes of intermittent flaccid paralysis, but no atrophy or hypertrophy of muscles; autosomal dominant inheritance caused by mutation in the sodium channel gene (SCN4A) on chromosome 17q. This is a disorder allelic to hyperkalemic periodic paralysis. There is a variant autosomal dominant form [MIM*168350] in which cold is not a provoking factor.
Synonym(s): Eulenburg disease

con·gen·i·tal par·a·my·o·to·ni·a

, paramyotonia congenita (kŏn-jen'i-tăl par'ă-mī-ō-tō'nē-ă, par'ă-mī-ō-tō'nē-ă kon-jen'i-tă)
A nonprogressive myotonia induced by exposure of muscles to cold; there are episodes of intermittent flaccid paralysis, but no atrophy or hypertrophy of muscles; autosomal dominant inheritance. There is a variant autosomal dominant form in which cold is not a provoking factor.
Synonym(s): Eulenburg disease.

paramyotonia

a disease marked by tonic spasms due to disorder of muscular tonicity, especially a hereditary and congenital affliction.

paramyotonia congenita
myotonia congenita.