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Inherited rippling muscle disease

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Description

Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

ORDO

  • Mode of Inheritance

    VARIANTS

    0

    Genes

    External Links

    • OMIM
    • Orphanet

      97238

    • HPO
    • Medgen

      CN296487

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