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:
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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.
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Pain and Stiffness:
- Muscle stiffness, cramps, and pain, especially post-exercise.
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Calf Hypertrophy:
- Occasionally present, characterized by visibly enlarged calf muscles.
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Electrically Silent Muscle Contractions:
- Despite clinical muscle activity, EMG (electromyography) shows no electrical discharges during mounding or rippling.
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Absence of Weakness or Atrophy:
- Unlike other myopathies, muscle strength is preserved, and muscle wasting is uncommon.