maternally-inherited progressive external ophthalmoplegia
ORPHA: 663
Overview
Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page
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 maternally-inherited 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
Orphanet Code
ORPHA:663maternally-inherited progressive external ophthalmoplegia
| 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