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GTR Home > Conditions/Phenotypes > Distal myopathy, Tateyama type

Distal myopathy, Tateyama type

Synonyms
CAV3-Related Distal Myopathy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition. [from MedlinePlus Genetics]

Available tests

73 tests are in the database for this condition.

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Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21, CAV3
    Summary: caveolin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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