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Charcot-Marie-Tooth disease type 4C

ORPHA:99949 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(8)

  • Abnormal foot morphologyHP:0001760
  • Decreased motor nerve conduction velocityHP:0003431
  • Decreased number of peripheral myelinated nerve fibersHP:0003380
  • Demyelinating peripheral neuropathyHP:0007108
  • EMG: chronic denervation signsHP:0003444
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • Sensorimotor neuropathyHP:0007141

Frequent (79-30%)(14)

  • AreflexiaHP:0001284
  • Distal amyotrophyHP:0003693
  • Distal muscle weaknessHP:0002460
  • Foot dorsiflexor weaknessHP:0009027
  • Frequent fallsHP:0002359
  • Gait ataxiaHP:0002066
  • HammertoeHP:0001765
  • Impaired distal vibration sensationHP:0006886
  • Muscle spasmHP:0003394
  • MyalgiaHP:0003326
  • Neuropathic spinal arthropathyHP:0008443
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • Tongue fasciculationsHP:0001308

Occasional (29-5%)(25)

  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal pupillary light reflexHP:0007695
  • AnisocoriaHP:0009916
  • Cerebellar atrophyHP:0001272
  • DiplopiaHP:0000651
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • Facial paralysisHP:0007209
  • Failure to thriveHP:0001508
  • Head tremorHP:0002346
  • Hip dysplasiaHP:0001385
  • HypoventilationHP:0002791
  • Impaired pain sensationHP:0007328
  • Inability to walkHP:0002540
  • NystagmusHP:0000639
  • Pes planusHP:0001763
  • Positive Romberg signHP:0002403
  • Respiratory insufficiencyHP:0002093
  • Sensorineural hearing impairmentHP:0000407
  • Sensory ataxiaHP:0010871
  • StrabismusHP:0000486
  • Tongue atrophyHP:0012473
  • Tongue muscle weaknessHP:0000183
  • Vocal cord paresisHP:0001604
  • Weakness of facial musculatureHP:0030319

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

  • Optic atrophyHP:0000648
  • Peripheral visual field lossHP:0007994
  • Pes valgusHP:0008081
  • Trigeminal neuralgiaHP:0100661