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Vocal cord and pharyngeal distal myopathy

ORPHA:600 · Disease · Disorder

HPO 表現型（共 30 項）

Frequent (79-30%)(23)

  • Abnormal calf musculature morphologyHP:0001430
  • Abnormal morphology of musculature of pharynxHP:0430015
  • Amyotrophic lateral sclerosisHP:0007354
  • Ankle weaknessHP:0031374
  • AspirationHP:0002835
  • Bowing of the vocal cordsHP:0008756
  • Bulbar palsyHP:0001283
  • Distal muscle weaknessHP:0002460
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EMG abnormalityHP:0003457
  • Exercise-induced myalgiaHP:0003738
  • Gait disturbanceHP:0001288
  • Hoarse voiceHP:0001609
  • Hypernasal speechHP:0001611
  • HyperreflexiaHP:0001347
  • Imperfect vocal cord adductionHP:0005934
  • Mildly elevated creatine kinaseHP:0008180
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Rimmed vacuolesHP:0003805
  • Unsteady gaitHP:0002317
  • Vocal cord paresisHP:0001604
  • Weak voiceHP:0001621

Occasional (29-5%)(3)

  • Abnormality of the extraocular musclesHP:0008049
  • Distal upper limb amyotrophyHP:0007149
  • Shoulder girdle muscle weaknessHP:0003547

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

  • Decreased nerve conduction velocityHP:0000762
  • DementiaHP:0000726
  • Distal sensory impairmentHP:0002936

Excluded (0%)(1)

  • Inflammatory myopathyHP:0009071