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Progressive external ophthalmoplegia-myopathy-emaciation syndrome

ORPHA:352447 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(1)

  • Progressive external ophthalmoplegiaHP:0000590

Frequent (79-30%)(21)

  • Decreased mitochondrial numberHP:0040013
  • Dilated cardiomyopathyHP:0001644
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • DyspneaHP:0002094
  • Easy fatigabilityHP:0003388
  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • Generalized amyotrophyHP:0003700
  • Hypernasal speechHP:0001611
  • HyporeflexiaHP:0001265
  • KyphosisHP:0002808
  • MyopathyHP:0003198
  • NauseaHP:0002018
  • Neuropathic spinal arthropathyHP:0008443
  • PtosisHP:0000508
  • Ragged-red muscle fibersHP:0003200
  • Recurrent infectionsHP:0002719
  • Respiratory failureHP:0002878
  • Spinal rigidityHP:0003306
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(3)

  • Kidney stoneHP:0000787
  • Poor appetiteHP:0004396
  • Respiratory insufficiency due to muscle weaknessHP:0002747

Very rare (<4-1%)(6)

  • ArrhythmiaHP:0011675
  • Cerebellar atrophyHP:0001272
  • DiarrheaHP:0002014
  • Hypergonadotropic hypogonadismHP:0000815
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252

Excluded (0%)(1)

  • DiplopiaHP:0000651