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MedlinePlus Health Topics
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C3280443
http://purl.bioontology.org/ontology/MEDLINEPLUS/C3280443
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|---|---|
| Preferred Name | MPDT |
| Definitions |
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.
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| Synonyms |
CAV3-related distal myopathy
Distal myopathy, Tateyama type
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
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| altLabel |
CAV3-related distal myopathy
Distal myopathy, Tateyama type
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| prefLabel | MPDT
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| Associated condition of | |
| DB XR ID | GTR:C3280443~MeSH:D049310~OMIM:614321~SNOMED CT:711265009
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| Inheritance | ad:Autosomal dominant
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| type | |
| tui | T047
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| notation | C3280443
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| Semantic type UMLS property | |
| cui | C3280443
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