rippling muscle disease
Last reviewed 10/2022
- 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)
- hallmarks of RMD
- 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
- locus included the caveolin-3 gene
(CAV3)
- 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)
- clinical symptoms of RMD are muscle stiffness, exercise-induced
muscle pain, and cramp-like sensations
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