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Sporadic adult-onset ataxia of unknown etiology

ORPHA:247234 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(3)

  • Abnormality of eye movementHP:0000496
  • AtaxiaHP:0001251
  • Gait ataxiaHP:0002066

Frequent (79-30%)(8)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal vestibulo-ocular reflexHP:0007670
  • Cerebellar cortical atrophyHP:0008278
  • Gaze-evoked nystagmusHP:0000640
  • Impaired smooth pursuitHP:0007772
  • Macular degenerationHP:0000608
  • Memory impairmentHP:0002354
  • Visual lossHP:0000572

Occasional (29-5%)(14)

  • Abnormal cranial nerve morphologyHP:0001291
  • AkinesiaHP:0002304
  • Babinski signHP:0003487
  • DysarthriaHP:0001260
  • DysdiadochokinesisHP:0002075
  • DysphagiaHP:0002015
  • HyperreflexiaHP:0001347
  • Hypomimic faceHP:0000338
  • ParkinsonismHP:0001300
  • Resting tremorHP:0002322
  • RigidityHP:0002063
  • Sensory neuropathyHP:0000763
  • Shuffling gaitHP:0002362
  • SpasticityHP:0001257

Very rare (<4-1%)(3)

  • DementiaHP:0000726
  • Intention tremorHP:0002080
  • Urinary incontinenceHP:0000020