chronic progressive external ophthalmoplegia
MeSH: D017246ORPHA: 663
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 chronic progressive external ophthalmoplegia, sourced from HPO and Orphanet clinical annotations.
Progressive external ophthalmoplegiaMuscle abnormality related to mitochondrial dysfunctionPtosisHypothyroidismBrisk reflexesRestrictive ventilatory defectIncreased circulating lactate concentrationRespiratory insufficiency due to muscle weaknessRagged-red muscle fibersAxial muscle weaknessEMG abnormalityMildly elevated creatine kinaseAbnormal mitochondria in muscle tissueProgressive proximal muscle weaknessDepressionMild intellectual disability
Classification & Codes
MeSH Code
D017246Orphanet Code
ORPHA:663chronic progressive external ophthalmoplegia
| MeSH | D017246 |
| Orphanet | ORPHA:663 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO