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Autosomal recessive cerebellar ataxia with late-onset spasticity

ORPHA:352641 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(3)

  • Babinski signHP:0003487
  • Progressive cerebellar ataxiaHP:0002073
  • SpasticityHP:0001257

Frequent (79-30%)(11)

  • Abnormal pyramidal signHP:0007256
  • Abnormal saccadic eye movementsHP:0000570
  • Brisk reflexesHP:0001348
  • DysphagiaHP:0002015
  • Gait ataxiaHP:0002066
  • Impaired proprioceptionHP:0010831
  • Lower limb spasticityHP:0002061
  • NystagmusHP:0000639
  • Peripheral axonal neuropathyHP:0003477
  • Sensorimotor neuropathyHP:0007141
  • Spastic dysarthriaHP:0002464

Occasional (29-5%)(8)

  • Cerebral atrophyHP:0002059
  • Distal amyotrophyHP:0003693
  • Head tremorHP:0002346
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Urinary incontinenceHP:0000020

Very rare (<4-1%)(2)

  • Mild intellectual disabilityHP:0001256
  • Truncal ataxiaHP:0002078

Excluded (0%)(2)

  • Decreased circulating vitamin E concentrationHP:0100513
  • Reduced circulating vitamin A concentrationHP:0004905