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Autosomal dominant spastic ataxia type 1

ORPHA:251282 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(4)

  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • Lower limb spasticityHP:0002061
  • Supranuclear gaze palsyHP:0000605

Frequent (79-30%)(12)

  • Babinski signHP:0003487
  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • Jerky head movementsHP:0006961
  • Leg muscle stiffnessHP:0008969
  • Limb ataxiaHP:0002070
  • Memory impairmentHP:0002354
  • Slow saccadic eye movementsHP:0000514
  • Spastic ataxiaHP:0002497
  • Spastic dysarthriaHP:0002464
  • Spastic gaitHP:0002064
  • Spastic paraplegiaHP:0001258

Occasional (29-5%)(7)

  • Abnormal eyelid morphologyHP:0000492
  • DystoniaHP:0001332
  • Impaired proprioceptionHP:0010831
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Pes cavusHP:0001761
  • PtosisHP:0000508
  • TremorHP:0001337

Excluded (0%)(3)

  • Abnormal cerebrospinal fluid morphologyHP:0002921
  • Generalized amyotrophyHP:0003700
  • SeizureHP:0001250