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.
References in periodicals archive ?
Myotonia congenita and paramyotonia congenita differ from each other in the age of onset, muscles affected and the form of myotonia present.
Paramyotonia congenita causes a type of myotonia in which exposure to cold brings on prolonged muscle contraction in the face, forearms and hands.
However, it differs from myotonia congenita in being more readily triggered by cold and in that the myotonia in paramyotonia congenita becomes worse rather than better with repetitive activity.
Another diagnostic test is the electro-myogram (EMG), which is particularly helpful in the diagnosis of myotonia congenita or paramyotonia congenita. Placing small electrodes into muscle to measure electrical activity provides information indicating the health of the body's muscles and nerves.
With paramyotonia congenita, specific treatment of the symptoms is often unnecessary.