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Autosomal recessive progressive external ophthalmoplegia

ORPHA:254886 · Disease · Disorder

HPO 表現型（共 42 項）

Frequent (79-30%)(12)

  • CardiomyopathyHP:0001638
  • Cytochrome C oxidase-negative muscle fibersHP:0003688
  • DysphagiaHP:0002015
  • External ophthalmoplegiaHP:0000544
  • Facial palsyHP:0010628
  • Mask-like faciesHP:0000298
  • Mitochondrial myopathyHP:0003737
  • MyopathyHP:0003198
  • ParesthesiaHP:0003401
  • Peripheral neuropathyHP:0009830
  • Ragged-red muscle fibersHP:0003200
  • Sensory axonal neuropathyHP:0003390

Occasional (29-5%)(27)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal cerebrospinal fluid morphologyHP:0002921
  • Abnormal retinal morphologyHP:0000479
  • Action tremorHP:0002345
  • AtaxiaHP:0001251
  • BradykinesiaHP:0002067
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Cogwheel rigidityHP:0002396
  • DepressionHP:0000716
  • Distal sensory impairmentHP:0002936
  • DyschromatopsiaHP:0007641
  • Exercise intoleranceHP:0003546
  • Hand muscle weaknessHP:0030237
  • Hearing impairmentHP:0000365
  • HyporeflexiaHP:0001265
  • Muscle fiber atrophyHP:0100295
  • Muscle stiffnessHP:0003552
  • Optic atrophyHP:0000648
  • Optic neuritisHP:0100653
  • Parkinsonism with favorable response to dopaminergic medicationHP:0002548
  • Proximal muscle weaknessHP:0003701
  • PtosisHP:0000508
  • Shuffling gaitHP:0002362
  • Stooped postureHP:0025403
  • Visual impairmentHP:0000505
  • Weak voiceHP:0001621

Very rare (<4-1%)(3)

  • Cognitive impairmentHP:0100543
  • Elevated circulating creatine kinase activityHP:0003236
  • Scapular wingingHP:0003691