inherited rippling muscle disease
MONDO:0020704Mondo
Findings
No curated finding names inherited rippling muscle disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0020704), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CAV3HGNC:1529
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)