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Autosomal dominant Charcot-Marie-Tooth disease type 2A2

ORPHA:99947 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(6)

  • Abnormal foot morphologyHP:0001760
  • Absent Achilles reflexHP:0003438
  • EMG: chronic denervation signsHP:0003444
  • Foot dorsiflexor weaknessHP:0009027
  • Sensory axonal neuropathyHP:0003390
  • Somatic sensory dysfunctionHP:0003474

Frequent (79-30%)(18)

  • Abnormality of the handHP:0001155
  • Ankle hypermobilityHP:0006460
  • Areflexia of lower limbsHP:0002522
  • Difficulty climbing stairsHP:0003551
  • Difficulty runningHP:0009046
  • Distal lower limb muscle weaknessHP:0009053
  • Distal sensory impairmentHP:0002936
  • Foot painHP:0025238
  • Frequent fallsHP:0002359
  • Hand muscle weaknessHP:0030237
  • Hand tremorHP:0002378
  • Impaired pain sensationHP:0007328
  • Impaired temperature sensationHP:0010829
  • Impaired vibratory sensationHP:0002495
  • Muscle spasmHP:0003394
  • Paresis of extensor muscles of the big toeHP:0002601
  • Pes cavusHP:0001761
  • Poor fine motor coordinationHP:0007010

Occasional (29-5%)(16)

  • Abnormal spinal cord morphologyHP:0002143
  • Absent patellar reflexesHP:0006844
  • Babinski signHP:0003487
  • Distal lower limb amyotrophyHP:0008944
  • DysphoniaHP:0001618
  • Flexion contractureHP:0001371
  • Hoarse voiceHP:0001609
  • Inability to walk by childhood/adolescenceHP:0006915
  • ParesthesiaHP:0003401
  • Postural tremorHP:0002174
  • Quadriceps muscle weaknessHP:0003731
  • Restless legsHP:0012452
  • Steppage gaitHP:0003376
  • Triceps weaknessHP:0031108
  • Upper limb painHP:0012513
  • Vocal cord paralysisHP:0001605

Very rare (<4-1%)(5)

  • HydrocephalusHP:0000238
  • NyctalopiaHP:0000662
  • Optic atrophyHP:0000648
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407