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.
References in periodicals archive ?
Central core disease, some forms of myotonia congenita, myotubular myopathy (possibly), some forms of nemaline myopathy, paramyotonia congenita and periodic paralysis follow the autosomal dominant pattern.
Another diagnostic test is the electro-myogram (EMG), which is particularly helpful in the diagnosis of myotonia congenita or paramyotonia congenita.
With paramyotonia congenita, specific treatment of the symptoms is often unnecessary.
Thus far, locations of the defective genes responsible for central core disease, hyperkalemic periodic paralysis, paramyotonia congenita and at least three forms of myotonia congenita are known.