cap myopathy
Findings
No curated finding names cap myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Definition from the Mondo Disease Ontology (MONDO:0015753), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal muscle fiber morphologyHPOHP:0004303
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Aortic root aneurysmHPOHP:0002616
- Occasional (5% to 29% of cases)
- Central hypoventilationHPOHP:0007110
- Occasional (5% to 29% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Occasional (5% to 29% of cases)
- Difficulty runningHPOHP:0009046
- Occasional (5% to 29% of cases)
- Easy fatigabilityHPOHP:0003388
- Occasional (5% to 29% of cases)
- Facial palsyHPOHP:0010628
- Occasional (5% to 29% of cases)
- Fatiguable weakness of proximal limb musclesHPOHP:0030200
- Occasional (5% to 29% of cases)
Show the remaining 18
- Frequent fallsHPOHP:0002359
- Occasional (5% to 29% of cases)
- Generalized amyotrophyHPOHP:0003700
- Occasional (5% to 29% of cases)
- Generalized hypotoniaHPOHP:0001290
- Occasional (5% to 29% of cases)
- Gowers signHPOHP:0003391
- Occasional (5% to 29% of cases)
- Hypernasal speechHPOHP:0001611
- Occasional (5% to 29% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
Other names
1 name
Resolves to: cap myopathy
- Also called
- Cap disease