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.
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