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Spinocerebellar ataxia type 36

ORPHA:276198 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(5)

  • AtaxiaHP:0001251
  • DysarthriaHP:0001260
  • Hearing impairmentHP:0000365
  • Limb ataxiaHP:0002070
  • Truncal ataxiaHP:0002078

Frequent (79-30%)(10)

  • Babinski signHP:0003487
  • Blurred visionHP:0000622
  • DysmetriaHP:0001310
  • FasciculationsHP:0002380
  • Gait disturbanceHP:0001288
  • Loss of Purkinje cells in the cerebellar vermisHP:0007001
  • Skeletal muscle atrophyHP:0003202
  • Slow saccadic eye movementsHP:0000514
  • Tongue atrophyHP:0012473
  • Tongue fasciculationsHP:0001308

Occasional (29-5%)(2)

  • HyperreflexiaHP:0001347
  • PtosisHP:0000508

Very rare (<4-1%)(10)

  • Attention deficit hyperactivity disorderHP:0007018
  • Bowel incontinenceHP:0002607
  • DiplopiaHP:0000651
  • DysphagiaHP:0002015
  • Hand tremorHP:0002378
  • Head tremorHP:0002346
  • Intention tremorHP:0002080
  • Limb myoclonusHP:0045084
  • MigraineHP:0002076
  • VertigoHP:0002321