myotonia permanens

myotonia permanens: a rare autosomal dominant myotonia characterized by severe myotonia and hypertrophy of muscles around the neck and shoulders, aggravated by potassium intake, but not associated with muscle weakness. Like myotonia fluctuans and several other disorders, it is due to mutation in the SCNA4A gene (locus: 17q23.1-q25.3), which encodes a subunit of a voltage-gated sodium channel.

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myotonia fluctuans — a rare autosomal dominant myotonia characterized by fluctuating degrees of muscle stiffness, aggravated by potassium intake, but not associated with muscle weakness. Like myotonia permanens and several other disorders, it is due to mutation in… … Medical dictionary
paramyotonia congenita — a rare constitutional disorder in which prolonged contraction of muscle fibres (see myotonia) develops when the patient is exposed to cold. This may be due to a disorder of potassium channels. * * * an autosomal dominant disorder clinically… … Medical dictionary

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