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 ?
Analgesia for labor and delivery in a parturient with paramyotonia congenita. Ann Franc D'anesth Reanim 2013; 32: 372-4.
Also, a doctor might test for periodic paralysis by having the patient consume safe doses of carbohydrate or potassium, or for paramyotonia congenita by immersing the patient's arm in cold water.
What are myotonia congenita and paramyotonia congenita?
Myotonia congenita and paramyotonia congenita were first described in the 19th century and are nonlethal and generally nonprogressive diseases of voluntary muscle.
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.