Rippling muscle disease

Definition:

Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed.

References:

[1]. Elisabetta Gazzerro, et al. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. [Content Brief]

[2]. Graham D Lamb, et al. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. Muscle Nerve. 2005 May;31(5):652-8. [Content Brief]

[3]. R C Betz, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet. 2001 Jul;28(3):218-9. [Content Brief]

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