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CAV3-related distal myopathy

CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterised 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.

Descrição

CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterised 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.

Padrões de herança

The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.

Other names

Distal myopathy, Tateyama type

MPDT

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Histórico do artigo

As informações nesta página são escritas e revisadas por clínicos qualificados.
  • 18 de ago de 2020 | Última versão
  • 1 May 2014 | Publicado originalmente

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