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Autosomal dominant Charcot-Marie-Tooth disease type 2Z

ORPHA:466768 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(8)

  • Abnormality of peripheral somatosensory evoked potentialsHP:0100290
  • Diminished deep tendon reflexHP:0001315
  • Distal lower limb amyotrophyHP:0008944
  • Distal lower limb muscle weaknessHP:0009053
  • Distal muscle weaknessHP:0002460
  • Lower limb amyotrophyHP:0007210
  • Mixed demyelinating and axonal polyneuropathyHP:0007327
  • Sensory axonal neuropathyHP:0003390

Frequent (79-30%)(22)

  • Abnormal motor nerve conduction velocityHP:0040131
  • Abnormal peripheral myelinationHP:0003130
  • Babinski signHP:0003487
  • Decreased distal sensory nerve action potentialHP:0007230
  • Difficulty runningHP:0009046
  • Distal amyotrophyHP:0003693
  • FatigueHP:0012378
  • Flexion contracture of fingerHP:0012785
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • Impaired tactile sensationHP:0010830
  • Impaired vibratory sensationHP:0002495
  • Intellectual disabilityHP:0001249
  • Joint contracture of the handHP:0009473
  • Motor axonal neuropathyHP:0007002
  • Proximal upper limb amyotrophyHP:0008948
  • Somatic sensory dysfunctionHP:0003474
  • Specific learning disabilityHP:0001328
  • TremorHP:0001337
  • Upper limb amyotrophyHP:0009129
  • Upper limb muscle weaknessHP:0003484
  • Upper motor neuron dysfunctionHP:0002493

Occasional (29-5%)(33)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal myelinationHP:0012447
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal speech patternHP:0002167
  • Abnormally high-pitched voiceHP:0001620
  • Atopic dermatitisHP:0001047
  • Atrophy of the spinal cordHP:0006827
  • Brain atrophyHP:0012444
  • Congenital finger flexion contracturesHP:0005879
  • Distal upper limb muscle weaknessHP:0008959
  • DyschromatopsiaHP:0007641
  • FasciculationsHP:0002380
  • Foot dorsiflexor weaknessHP:0009027
  • Generalized muscle weaknessHP:0003324
  • Global developmental delayHP:0001263
  • Hand muscle weaknessHP:0030237
  • Hearing impairmentHP:0000365
  • HypertoniaHP:0001276
  • Inability to walkHP:0002540
  • Limb-girdle muscle atrophyHP:0003797
  • Limb-girdle muscle weaknessHP:0003325
  • Muscle spasmHP:0003394
  • MyokymiaHP:0002411
  • Neck muscle weaknessHP:0000467
  • Periventricular leukomalaciaHP:0006970
  • Pes cavusHP:0001761
  • Proximal lower limb muscle weaknessHP:0008994
  • Proximal muscle weaknessHP:0003701
  • Proximal upper limb muscle weaknessHP:0008997
  • Spinal muscular atrophyHP:0007269
  • Tip-toe gaitHP:0030051
  • Tongue atrophyHP:0012473
  • Tongue tremorHP:0031947

Very rare (<4-1%)(9)

  • Abnormal facial shapeHP:0001999
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Diaphragmatic paralysisHP:0006597
  • Generalized hypotoniaHP:0001290
  • MicrocephalyHP:0000252
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • SeizureHP:0001250
  • Urinary incontinenceHP:0000020