paramyotonia congenita


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paramyotonia congenita

[‚par·ə‚mī·ə′tō·nē·ə kən′jen·əd·ə]
(medicine)
A heredofamilial condition characterized by recurrent muscular stiffness and weakness (myotonia) on exposure to cold, as well as on mechanical irritation; transmitted as an autosomal dominant and considered to be a variety of the hyperkalemic form of periodic paralysis. Also known as Eulenburg's disease; myotonia congenita intermittens.
References in periodicals archive ?
Different defects in the same gene on chromosome 17 appear to cause paramyotonia congenita and at least one form of myotonia congenita, as well as hyperkalemic periodic paralysis.
Myotonia congenita and paramyotonia congenita differ from each other in the age of onset, muscles affected and the form of myotonia present.
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.
A number of different defects in this same gene have been found to be associated with hyperkalemic periodic paralysis, at least one form of myotonia congenita and paramyotonia congenita.