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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

ORPHA:329336 · Disease · Disorder

HPO 表現型（共 32 項）

Obligate (100%)(1)

  • Progressive external ophthalmoplegiaHP:0000590

Very frequent (99-80%)(2)

  • Exercise intoleranceHP:0003546
  • Limb muscle weaknessHP:0003690

Frequent (79-30%)(14)

  • Areflexia of lower limbsHP:0002522
  • Bilateral ptosisHP:0001488
  • Difficulty climbing stairsHP:0003551
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Exercise-induced myalgiaHP:0003738
  • Fatigable weakness of respiratory musclesHP:0030196
  • Feeding difficultiesHP:0011968
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • MyalgiaHP:0003326
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Skeletal muscle atrophyHP:0003202
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(15)

  • Abnormal atrioventricular conductionHP:0005150
  • Abnormal pyramidal signHP:0007256
  • Abnormal spinocerebellar tract morphologyHP:0003133
  • CardiomyopathyHP:0001638
  • Deficit in phonologic short-term memoryHP:0002549
  • EsotropiaHP:0000565
  • Gait imbalanceHP:0002141
  • Limb dysmetriaHP:0002406
  • Loss of ambulationHP:0002505
  • MigraineHP:0002076
  • Neck flexor weaknessHP:0003722
  • Pigmentary retinopathyHP:0000580
  • Psychomotor deteriorationHP:0002361
  • ScoliosisHP:0002650
  • Sensorimotor neuropathyHP:0007141