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Spinocerebellar ataxia type 1

ORPHA:98755 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(2)

  • Peripheral neuropathyHP:0009830
  • Progressive cerebellar ataxiaHP:0002073

Frequent (79-30%)(21)

  • Abnormal flash visual evoked potentialsHP:0007928
  • Abnormal nerve conduction velocityHP:0040129
  • Abnormality of eye movementHP:0000496
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • BradykinesiaHP:0002067
  • Bulbar signsHP:0002483
  • Cerebellar atrophyHP:0001272
  • ChoreaHP:0002072
  • Cognitive impairmentHP:0100543
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • Gait disturbanceHP:0001288
  • InertiaHP:0030216
  • Loss of Purkinje cells in the cerebellar vermisHP:0007001
  • Memory impairmentHP:0002354
  • Slow saccadic eye movementsHP:0000514
  • Slurred speechHP:0001350
  • Staring gazeHP:0025401
  • Upgaze palsyHP:0025331

Occasional (29-5%)(17)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormality of masticatory muscleHP:0410011
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • FasciculationsHP:0002380
  • Gait imbalanceHP:0002141
  • Generalized hypotoniaHP:0001290
  • Hyperactive deep tendon reflexesHP:0006801
  • Hypermetric saccadesHP:0007338
  • HyporeflexiaHP:0001265
  • Impaired proprioceptionHP:0010831
  • NystagmusHP:0000639
  • OphthalmoparesisHP:0000597
  • Optic atrophyHP:0000648
  • Postural tremorHP:0002174
  • Respiratory failureHP:0002878
  • Skeletal muscle atrophyHP:0003202