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Hereditary motor and sensory neuropathy, Okinawa type

ORPHA:90117 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(8)

  • Abnormal peripheral action potential amplitudeHP:0030179
  • AreflexiaHP:0001284
  • CoughHP:0012735
  • Fatiguable weakness of proximal limb musclesHP:0030200
  • Intermittent painful muscle spasmsHP:0011964
  • Lower limb muscle weaknessHP:0007340
  • Somatic sensory dysfunctionHP:0003474
  • Upper limb muscle weaknessHP:0003484

Frequent (79-30%)(11)

  • Abnormal cranial nerve physiologyHP:0031910
  • Abnormality of the urinary systemHP:0000079
  • Bulbar signsHP:0002483
  • Difficulty standingHP:0003698
  • Distal sensory impairmentHP:0002936
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: positive sharp wavesHP:0030007
  • Inability to walkHP:0002540
  • Limb fasciculationsHP:0007289
  • Muscle fibrillationHP:0010546
  • TremorHP:0001337

Occasional (29-5%)(9)

  • Abnormal glucose homeostasisHP:0011014
  • Abnormal seventh cranial physiologyHP:0010827
  • Aspiration pneumoniaHP:0011951
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • Lower cranial nerve dysfunctionHP:0410262
  • Nasogastric tube feeding in infancyHP:0011470
  • Respiratory failureHP:0002878
  • Respiratory failure requiring assisted ventilationHP:0004887