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proximal myotonic myopathy


Definition: an autosomal dominant, multisystem disorder, with onset in young adult life, characterized by proximal myotonia and weakness, muscle pain, baldness, cataracts, cardiac conduction disturbances, and testicular atrophy. In contrast to myotonic dystrophy, features of this disorder do not include facial weakness and ptosis, distal limb weakness and wasting, and trinucleotide repeat expansion at the gene loci for myotonic dystrophy.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.