Хвороба періодичних мязових спазмів
ORPHA:97238· ICD-10 G71.8· Rippling muscle disease
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Elderly, Infancy