Rippling muscle disease (Q90418): Difference between revisions
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| description / pt-br | description / pt-br | ||
A irritabilidade muscular causa rigidez muscular, lentificação dos movimentos após o repouso, dor muscular induzida pelo exercício e sensações semelhantes a cãibras. Percussão nos músculos evocam contrações rápidas e o alongamento passivo induz contrações involuntárias das fibras musculares dispostas mais à superfície muscular, dando o nome à doença. A RMD geralmente tem um modo de herança autossômico dominante, mas casos esporádicos também foram descritos. Estudos genéticos identificaram principalmente mutações de sentido incorreto no gene da caveolina-3 (CAV3) no cromossomo 1q42 que causam expressão reduzida de caveolina no sarcolema dos pacientes com RMD. | |||
| description / en | description / en | ||
Muscular irritability causes muscle stiffness, slowness of movements after rest, exercise-induced muscle pain, and cramp-like sensations. Taps on the muscles evoke rapid contractions, and passive stretching induce involuntary contractions of muscle fibres that roll over the muscle surface, giving the disease its name. RMD usually has an autosomal dominant mode of inheritance, but sporadic cases have also been described. Genetic studies have identified mostly missense mutations in the caveolin-3 gene (CAV3) on chromosome 1q42 that cause reduced expression of sarcolemmal caveolin in RMD. | |||
Revision as of 17:23, 15 August 2026
Muscular irritability causes muscle stiffness, slowness of movements after rest, exercise-induced muscle pain, and cramp-like sensations. Taps on the muscles evoke rapid contractions, and passive stretching induce involuntary contractions of muscle fibres that roll over the muscle surface, giving the disease its name. RMD usually has an autosomal dominant mode of inheritance, but sporadic cases have also been described. Genetic studies have identified mostly missense mutations in the caveolin-3 gene (CAV3) on chromosome 1q42 that cause reduced expression of sarcolemmal caveolin in RMD.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_894802822 |
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| English | Rippling muscle disease |
Muscular irritability causes muscle stiffness, slowness of movements after rest, exercise-induced muscle pain, and cramp-like sensations. Taps on the muscles evoke rapid contractions, and passive stretching induce involuntary contractions of muscle fibres that roll over the muscle surface, giving the disease its name. RMD usually has an autosomal dominant mode of inheritance, but sporadic cases have also been described. Genetic studies have identified mostly missense mutations in the caveolin-3 gene (CAV3) on chromosome 1q42 that cause reduced expression of sarcolemmal caveolin in RMD. |
