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Machado-Joseph disease type 2

ORPHA:276241 · Clinical subtype · Subtype of disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(3)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Progressive cerebellar ataxiaHP:0002073
  • Progressive external ophthalmoplegiaHP:0000590

Frequent (79-30%)(22)

  • Abnormal pyramidal signHP:0007256
  • Babinski signHP:0003487
  • Cerebellar atrophyHP:0001272
  • ClumsinessHP:0002312
  • Degeneration of the striatumHP:0040140
  • Delayed speech and language developmentHP:0000750
  • Dilated fourth ventricleHP:0002198
  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Facial-lingual fasciculationsHP:0007089
  • Gaze-evoked nystagmusHP:0000640
  • HyperreflexiaHP:0001347
  • Peripheral neuropathyHP:0009830
  • Progressive gait ataxiaHP:0007240
  • ProptosisHP:0000520
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257
  • Spinocerebellar tract degenerationHP:0002503
  • Substantia nigra gliosisHP:0011960
  • Supranuclear ophthalmoplegiaHP:0000623
  • Upper motor neuron dysfunctionHP:0002493

Occasional (29-5%)(9)

  • Abnormal vestibular functionHP:0001751
  • Abnormality of temperature regulationHP:0004370
  • Distal lower limb amyotrophyHP:0008944
  • DysphagiaHP:0002015
  • Memory impairmentHP:0002354
  • Muscle spasmHP:0003394
  • Neurogenic bladderHP:0000011
  • Sleep disturbanceHP:0002360
  • Vocal cord paralysisHP:0001605