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Autosomal dominant progressive external ophthalmoplegia

ORPHA:254892 · Disease · Disorder

HPO 表現型（共 81 項）

Very frequent (99-80%)(2)

  • External ophthalmoplegiaHP:0000544
  • PtosisHP:0000508

Frequent (79-30%)(18)

  • Abnormality of eye movementHP:0000496
  • Abnormality of the mitochondrionHP:0012103
  • BradykinesiaHP:0002067
  • Cytochrome C oxidase-negative muscle fibersHP:0003688
  • EMG: myopathic abnormalitiesHP:0003458
  • Exercise intoleranceHP:0003546
  • Facial palsyHP:0010628
  • FatigueHP:0012378
  • Hypomimic faceHP:0000338
  • Limb muscle weaknessHP:0003690
  • Mitochondrial myopathyHP:0003737
  • MyopathyHP:0003198
  • OphthalmoparesisHP:0000597
  • OphthalmoplegiaHP:0000602
  • Quadriceps muscle weaknessHP:0003731
  • Ragged-red muscle fibersHP:0003200
  • Resting tremorHP:0002322
  • Shoulder girdle muscle weaknessHP:0003547

Occasional (29-5%)(42)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AnxietyHP:0000739
  • ArrhythmiaHP:0011675
  • AtaxiaHP:0001251
  • Atrial fibrillationHP:0005110
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Cogwheel rigidityHP:0002396
  • ConstipationHP:0002019
  • DepressionHP:0000716
  • Difficulty climbing stairsHP:0003551
  • Dilated cardiomyopathyHP:0001644
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Easy fatigabilityHP:0003388
  • Elevated circulating creatine kinase activityHP:0003236
  • Exertional dyspneaHP:0002875
  • Facial diplegiaHP:0001349
  • Failure to thriveHP:0001508
  • Focal white matter lesionsHP:0007042
  • Frequent fallsHP:0002359
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • GastroparesisHP:0002578
  • Generalized hypotoniaHP:0001290
  • Glucose intoleranceHP:0001952
  • Hearing impairmentHP:0000365
  • HypokinesiaHP:0002375
  • HyporeflexiaHP:0001265
  • Increased circulating lactate concentrationHP:0002151
  • Left ventricular hypertrophyHP:0001712
  • LethargyHP:0001254
  • MyalgiaHP:0003326
  • Peripheral axonal neuropathyHP:0003477
  • Peripheral neuropathyHP:0009830
  • Reduced left ventricular ejection fractionHP:0012664
  • Respiratory insufficiencyHP:0002093
  • RigidityHP:0002063
  • TremorHP:0001337
  • Ventricular arrhythmiaHP:0004308
  • Visual impairmentHP:0000505

Very rare (<4-1%)(19)

  • Abnormality of the liverHP:0001392
  • Absent Achilles reflexHP:0003438
  • Bipolar affective disorderHP:0007302
  • Cerebral visual impairmentHP:0100704
  • Cognitive impairmentHP:0100543
  • Diabetes mellitusHP:0000819
  • EdemaHP:0000969
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • GoiterHP:0000853
  • HyperthyroidismHP:0000836
  • HypertoniaHP:0001276
  • HypothyroidismHP:0000821
  • KetosisHP:0001946
  • MigraineHP:0002076
  • Muscle spasmHP:0003394
  • NocturiaHP:0000017
  • OsteoporosisHP:0000939
  • PalpitationsHP:0001962
  • SeizureHP:0001250