Rippling muscle disease
ORPHA:97238· ICD-10 G71.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy