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Spinocerebellar ataxia type 10

ORPHA:98761 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(3)

  • DysarthriaHP:0001260
  • Gait ataxiaHP:0002066
  • Progressive cerebellar ataxiaHP:0002073

Frequent (79-30%)(14)

  • Cerebellar atrophyHP:0001272
  • DysdiadochokinesisHP:0002075
  • DyskinesiaHP:0100660
  • DysmetriaHP:0001310
  • EEG with generalized epileptiform dischargesHP:0011198
  • Gait imbalanceHP:0002141
  • Gaze-evoked nystagmusHP:0000640
  • Generalized-onset seizureHP:0002197
  • Impaired smooth pursuitHP:0007772
  • Intention tremorHP:0002080
  • Kinetic tremorHP:0030186
  • NystagmusHP:0000639
  • Scanning speechHP:0002168
  • Unsteady gaitHP:0002317

Occasional (29-5%)(13)

  • Aggressive behaviorHP:0000718
  • ApathyHP:0000741
  • Babinski signHP:0003487
  • DepressionHP:0000716
  • Focal impaired awareness seizureHP:0002384
  • Focal motor seizureHP:0011153
  • Generalized hypotoniaHP:0001290
  • HyperreflexiaHP:0001347
  • HyporeflexiaHP:0001265
  • Lower limb spasticityHP:0002061
  • Sleep disturbanceHP:0002360
  • Status epilepticusHP:0002133
  • Urinary urgencyHP:0000012