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Last updated: 04 January 2025 Print

Rippling Muscle Disease (RMD)

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Rippling Muscle Diseasecaveolinopathy

Rippling Muscle Disease (RMD) is a rare inherited muscle disorder classified as a caveolinopathy, primarily caused by mutations in the CAV3 gene, which encodes caveolin-3, a protein critical for muscle cell membrane stability.

Key Clinical Features:

  1. Rippling and Mounding:

    • Muscle mounding: Localized bulging of muscles when tapped or percussed.
    • Rippling movements: Rolling or wave-like movements of muscles triggered by stretching or contraction.
  2. Pain and Stiffness:

    • Muscle stiffness, cramps, and pain, especially post-exercise.
  3. Calf Hypertrophy:

    • Occasionally present, characterized by visibly enlarged calf muscles.
  4. Electrically Silent Muscle Contractions:

    • Despite clinical muscle activity, EMG (electromyography) shows no electrical discharges during mounding or rippling.
  5. Absence of Weakness or Atrophy:

    • Unlike other myopathies, muscle strength is preserved, and muscle wasting is uncommon.

Genetic and Molecular Basis:

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