Rippling muscle disease (Q90418)
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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. |
