hereditary proximal myopathy with early respiratory failure
MeSH: C566343ORPHA: 178464
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 hereditary proximal myopathy with early respiratory failure, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceRestrictive ventilatory defectDyspneaRespiratory insufficiency due to muscle weaknessReduced vital capacitySkeletal muscle atrophyElevated circulating creatine kinase concentrationEMG: myopathic abnormalitiesMuscle fiber splittingIncreased variability in muscle fiber diameterNeck flexor weaknessType 1 muscle fiber predominanceRimmed vacuolesLimited hip movementNecrotizing myopathyFoot dorsiflexor weaknessOrthopneaInternally nucleated skeletal muscle fibersDistal muscle weaknessProximal muscle weaknessTibialis muscle weaknessCalf muscle hypertrophyHypertrophied muscle fibersFalls
Classification & Codes
MeSH Code
C566343Orphanet Code
ORPHA:178464hereditary proximal myopathy with early respiratory failure
| MeSH | C566343 |
| Orphanet | ORPHA:178464 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO