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Spinocerebellar ataxia type 42

ORPHA:458803 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(4)

  • Abnormal cerebellum morphologyHP:0001317
  • DysarthriaHP:0001260
  • Neurodevelopmental abnormalityHP:0012759
  • Unsteady gaitHP:0002317

Frequent (79-30%)(12)

  • Babinski signHP:0003487
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • DepressionHP:0000716
  • DysphagiaHP:0002015
  • Eyelid myokymiaHP:0031166
  • Gait ataxiaHP:0002066
  • Gaze-evoked horizontal nystagmusHP:0007979
  • Impaired vibration sensation at anklesHP:0006938
  • Saccadic smooth pursuit interruptionsHP:0001152
  • Spastic gaitHP:0002064
  • Urinary urgencyHP:0000012

Occasional (29-5%)(16)

  • Alzheimer diseaseHP:0002511
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • DiplopiaHP:0000651
  • Head tremorHP:0002346
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Hypometric saccadesHP:0000571
  • ImpotenceHP:0000802
  • NystagmusHP:0000639
  • Psoriasiform dermatitisHP:0003765
  • Reduced brain N-acetyl aspartate level by MRSHP:0012708
  • Resting tremorHP:0002322
  • ScoliosisHP:0002650
  • StrabismusHP:0000486
  • Upper limb postural tremorHP:0007351
  • Urinary incontinenceHP:0000020
  • VertigoHP:0002321