proximal myotonic myopathy

proximal myotonic myopathy (PROMM),

[MIM*600109] 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.

prox·i·mal my·o·ton·ic my·op·a·thy

(PROMM) (proks'i-măl mī'ō-ton'ik mī-op'ă-thē) An autosomal dominant, multisystemic 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.

单词	proximal myotonic myopathy
释义	DictionarySeemyotonic dystrophy proximal myotonic myopathy proximal myotonic myopathy (PROMM), [MIM600109] 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. prox·i·mal my·o·ton·ic my·op·a·thy (PROMM)* (proks'i-măl mī'ō-ton'ik mī-op'ă-thē) An autosomal dominant, multisystemic 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. See PROMM See PROMM
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