cap myopathy
MeSH: C579969ORPHA: 171881
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with cap myopathy, sourced from HPO and Orphanet clinical annotations.
High palateLong faceMotor delayReduced tendon reflexesAbnormal muscle fiber morphologyPectus excavatumGeneralized hypotoniaHypernasal speechMitral valve prolapsePes planusFrequent fallsPoor head controlAortic root aneurysmLumbar hyperlordosisThoracic scoliosisEasy fatigabilityGowers signDifficulty climbing stairsIncreased variability in muscle fiber diameterGeneralized amyotrophyReduced systolic functionCentral hypoventilationLower limb amyotrophyLower limb muscle weaknessPes valgusDifficulty runningFacial palsySinus tachycardiaTip-toe gaitFatiguable weakness of proximal limb muscles
Classification & Codes
MeSH Code
C579969Orphanet Code
ORPHA:171881cap myopathy
| MeSH | C579969 |
| Orphanet | ORPHA:171881 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO