autosomal dominant progressive external ophthalmoplegia

MeSH: C563575ORPHA: 254892

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Autosomal dominant 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 dominant progressive external ophthalmoplegia, sourced from HPO and Orphanet clinical annotations.

PtosisExternal ophthalmoplegiaHypomimic faceAbnormality of eye movementOphthalmoparesisOphthalmoplegiaBradykinesiaResting tremorMyopathyRagged-red muscle fibersEMG: myopathic abnormalitiesExercise intoleranceShoulder girdle muscle weaknessCytochrome C oxidase-negative muscle fibersLimb muscle weaknessQuadriceps muscle weaknessMitochondrial myopathyFacial palsyAbnormality of the mitochondrionFatigueHearing impairmentVisual impairmentCataractDepressionAnxietyAtaxiaLethargyDysarthriaHyporeflexiaCerebellar atrophyGait disturbanceGeneralized hypotoniaTremorFacial diplegiaFailure to thriveDilated cardiomyopathyLeft ventricular hypertrophyGlucose intoleranceDysphagiaConstipationGastroesophageal refluxRigidityGait ataxiaAbnormality of extrapyramidal motor functionRespiratory insufficiencyIncreased circulating lactate concentrationFrequent fallsHypokinesiaCogwheel rigidityGastroparesisExertional dyspneaElevated circulating creatine kinase concentrationMyalgiaEasy fatigabilityPeripheral axonal neuropathyDifficulty climbing stairsVentricular arrhythmiaAtrial fibrillationFocal white matter lesionsPeripheral neuropathyArrhythmiaReduced left ventricular ejection fractionNocturiaDiabetes mellitusHypothyroidismHyperthyroidismGoiterOsteoporosisEdemaSeizureHypertoniaAbnormality of the liverKetosisPalpitationsMigraineElevated circulating hepatic transaminase concentrationMuscle spasmAbsent Achilles reflexBipolar affective disorderCognitive impairmentCerebral visual impairment

Classification & Codes

MeSH Code

C563575

Orphanet Code

ORPHA:254892

autosomal dominant progressive external ophthalmoplegia

MeSH	`C563575`
Orphanet	`ORPHA:254892`
Treatments	0 drug(s)
Symptoms on record	81 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO