congenital paramyotonia
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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
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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.
Synonym(s): Eulenburg disease.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Eulenburg,
Albert, German neurologist, 1840-1917.Eulenburg disease - a nonprogressive myotonia induced by exposure of muscles to cold. Synonym(s): congenital paramyotonia
Medical Eponyms © Farlex 2012