autosomal recessive progressive external ophthalmoplegia
MeSH: C564926ORPHA: 254886
Overview
Autosomal recessive form of progressive external ophthalmoplegia
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 autosomal recessive progressive external ophthalmoplegia, sourced from HPO and Orphanet clinical annotations.
Mask-like faciesExternal ophthalmoplegiaCardiomyopathyDysphagiaMyopathyRagged-red muscle fibersSensory axonal neuropathyParesthesiaCytochrome C oxidase-negative muscle fibersMitochondrial myopathyPeripheral neuropathyFacial palsyHearing impairmentAbnormal retinal morphologyVisual impairmentPtosisOptic atrophyDepressionAtaxiaHyporeflexiaCerebellar atrophyWeak voiceCerebral atrophyBradykinesiaAction tremorShuffling gaitCogwheel rigidityAbnormal cerebral white matter morphologyParkinsonism with favorable response to dopaminergic medicationAbnormal cerebrospinal fluid morphologyDistal sensory impairmentExercise intoleranceMuscle stiffnessProximal muscle weaknessDyschromatopsiaStooped postureHand muscle weaknessMuscle fiber atrophyOptic neuritisElevated circulating creatine kinase concentrationScapular wingingCognitive impairment
Classification & Codes
MeSH Code
C564926Orphanet Code
ORPHA:254886autosomal recessive progressive external ophthalmoplegia
| MeSH | C564926 |
| Orphanet | ORPHA:254886 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO