congenital paramyotonia


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.

Eulenburg,

Albert, German neurologist, 1840-1917. Eulenburg disease - a nonprogressive myotonia induced by exposure of muscles to cold. Synonym(s): congenital paramyotonia