← 返回搜尋

Oculopharyngeal muscular dystrophy

ORPHA:270 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(9)

  • Abnormal muscle fiber morphologyHP:0004303
  • DysphagiaHP:0002015
  • FatigueHP:0012378
  • MyopathyHP:0003198
  • OphthalmoplegiaHP:0000602
  • PtosisHP:0000508
  • Ragged-red muscle fibersHP:0003200
  • Rimmed vacuolesHP:0003805
  • SpondylolisthesisHP:0003302

Frequent (79-30%)(13)

  • Angulated muscle fibersHP:0034045
  • Axial muscle weaknessHP:0003327
  • DysphoniaHP:0001618
  • Fatty replacement of skeletal muscleHP:0012548
  • Feeding difficultiesHP:0011968
  • Limb-girdle muscle weaknessHP:0003325
  • Muscle fiber intranuclear inclusion bodiesHP:0100304
  • PainHP:0012531
  • Reduced forced expiratory volume in one secondHP:0032342
  • Tongue atrophyHP:0012473
  • Tongue muscle weaknessHP:0000183
  • Weakness of facial musculatureHP:0030319
  • Wet voiceHP:6001011

Occasional (29-5%)(2)

  • Elevated circulating creatine kinase activityHP:0003236
  • Mask-like faciesHP:0000298

Very rare (<4-1%)(2)

  • Cognitive impairmentHP:0100543
  • Sleep apneaHP:0010535