Preferred Label : Rippling muscle disease;
ICD-11 definition : 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 fibers 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.;
ICD-11 synonym : RMD - [Rippling muscle disease];
ICD-11 acronym : RMD;
Origin ID : 894802822;
Automatic exact mappings (from CISMeF team)
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 fibers 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.
