mitochondrial myopathy with reversible cytochrome c oxidase deficiency
ORPHA: 254864
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 myopathy with reversible cytochrome c oxidase deficiency, sourced from HPO and Orphanet clinical annotations.
Generalized hypotoniaMuscle weaknessMyopathyRagged-red muscle fibersCytochrome C oxidase-negative muscle fibersIncreased muscle glycogen contentIncreased muscle lipid contentHyporeflexiaRespiratory distressSevere lactic acidosisMildly elevated creatine kinaseDecreased activity of mitochondrial complex IMacroglossiaHigh palateAbnormality of the nervous systemAbnormality of the liverAbnormality of the cardiovascular systemPoor suckHepatomegalyDecreased circulating carnitine concentrationRespiratory failure requiring assisted ventilationVentilator dependence with inability to weanNasogastric tube feeding in infancyDelayed gross motor development
Classification & Codes
Orphanet Code
ORPHA:254864mitochondrial myopathy with reversible cytochrome c oxidase deficiency
| Orphanet | ORPHA:254864 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO