adult-onset distal myopathy due to VCP mutation
ORPHA: 329478
Overview
human disease
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 adult-onset distal myopathy due to VCP mutation, sourced from HPO and Orphanet clinical annotations.
TremorFacial diplegiaBowel incontinenceBack painReduced vital capacityDistal muscle weaknessDementiaGait disturbanceAbnormality of the musculature of the lower limbsProgressive neurologic deteriorationFrequent fallsFasciculationsMyalgiaMuscle spasmEMG: myopathic abnormalitiesScapular wingingRimmed vacuolesMildly elevated creatine kinaseIntrinsic hand muscle atrophyNecrotizing myopathyWeakness of the intrinsic hand musclesFoot dorsiflexor weaknessFatty replacement of skeletal muscleUrinary incontinenceDepressionAnxietyDecreased nerve conduction velocityParkinsonism
Classification & Codes
Orphanet Code
ORPHA:329478adult-onset distal myopathy due to VCP mutation
| Orphanet | ORPHA:329478 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO