mitochondrial DNA deletion syndrome with progressive myopathy
ORPHA: 352470
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 mitochondrial DNA deletion syndrome with progressive myopathy, sourced from HPO and Orphanet clinical annotations.
MyopathyHyperlordosisMyalgiaGowers signMuscle spasmMitochondrial myopathyDecreased facial expressionCongenital ptosisElevated creatine kinase after exerciseDecreased mitochondrial numberProgressive external ophthalmoplegiaLimb-girdle muscle weaknessDepressionGait disturbanceGeneralized hypotoniaSlender buildDecreased fetal movementMultiple joint contracturesObstructive sleep apneaExertional dyspnea
Classification & Codes
Orphanet Code
ORPHA:352470mitochondrial DNA deletion syndrome with progressive myopathy
| Orphanet | ORPHA:352470 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO