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Rippling muscle disease: variable phenotype in a family with five afflicted members

Christian Jacobi1, Ruth Ruscheweyh, Matthias Vorgerd

  • 1Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany. christian_jacobi@med.uni-heidelberg.de

Muscle & Nerve
|August 22, 2009
PubMed

Insights

Rippling muscle disease (RMD) shows variable symptoms even within families. A family study revealed that the A92T caveolin-3 gene mutation causes RMD with inconsistent muscle weakness and distinct physical signs.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Molecular Biology

Background:

  • Rippling muscle disease (RMD) is a rare inherited neuromuscular disorder.
  • Autosomal dominant inheritance patterns are observed in some RMD families.
  • Mutations in the caveolin-3 gene are associated with RMD.

Observation:

  • A family with RMD exhibited an autosomal dominant inheritance pattern.
  • Affected individuals included heterozygous and homozygous carriers of the A92T caveolin-3 mutation.
  • Clinical manifestations, including muscle rippling and weakness, varied significantly among family members.

Findings:

  • The A92T mutation in the caveolin-3 gene was identified in all affected family members.
  • Percussion-induced contractions, muscle mounding, and rippling were key RMD features observed.
  • Muscle weakness was present in all individuals but showed inconsistent patterns.

Implications:

  • This study highlights the variable expressivity of RMD, even with the same mutation.
  • Understanding genotype-phenotype correlations in RMD is crucial for diagnosis and management.
  • Further research into caveolin-3's role in muscle function may reveal therapeutic targets.

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