rippling muscle disease

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rippling muscle disease (RMD) is a rare autosomal dominant disorder that is characterized by mechanically induced involuntary contractions of the skeletal muscle (1,2,3,4)
- clinical symptoms of RMD are muscle stiffness, exercise-induced muscle pain, and cramp-like sensations
  - hallmarks of RMD
    - percussion-induced rapid muscle contractions, localized mounding of muscle induced by tapping, and rolling movements across the muscle (rippling) that are triggered by tapping or passive muscle stretching
  - calf hypertrophy is sometimes observed
  - muscle weakness and atrophy are not prominent features of RMD
  - in general, extraocular muscles are spared (2)
- in 2001, Betz et al showed that RMD is linked to a locus on chromosome 3p25 in the original Norwegian family as well as in four German families
  - locus included the caveolin-3 gene (CAV3)
    - four different missense mutations have been identified as the molecular basis for the expression of the RMD phenotype in these independent pedigrees
  - note also that heterozygous mutations in CAV3 have also been reported in various phenotypes including autosomal dominant limb-girdle muscular dystrophy type 1C, asymptomatic elevated serum creatine kinase (hyperCKemia), distal myopathy and autosomal recessive form of RMD
- RMD patients have a moderately elevated serum creatine kinase (CK) (2)
- "..RMD is a rare, relatively mild, non-progressive condition. For these reasons, few therapeutic trials have been published. Only case reports report the benefit of dantrolene and calcium channel antagonists ." (5)

Reference:

(1) Vorgerd M et al. Phenotypic variability in rippling muscle disease. Neurology 1999;52: 1453–1459.
(2) Torbergsen T. Rippling muscle disease: a review. Muscle Nerve 2002 (Suppl. 11): S103–S107 (2)
(3) Betz RC et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28: 218–219.
(4) Nishino I, Ozawa E. Muscular dystrophies. Curr Opin Neurol 2002;15: 539–544.
(5) Roberts HL et al. Rippling muscle disease. Journal of Clinical Neuroscience 2006; 13 (5): 576-578

Last reviewed 01/2018

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