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Autosomal dominant spastic paraplegia type 31

ORPHA:101011 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(3)

  • Brisk reflexesHP:0001348
  • Proximal lower limb muscle weaknessHP:0008994
  • Spastic gaitHP:0002064

Frequent (79-30%)(9)

  • Difficulty runningHP:0009046
  • Distal sensory impairmentHP:0002936
  • Gait disturbanceHP:0001288
  • HypertoniaHP:0001276
  • Impaired proprioceptionHP:0010831
  • Lower limb hyperreflexiaHP:0002395
  • Pes cavusHP:0001761
  • Proximal lower limb amyotrophyHP:0008956
  • Upper limb hyperreflexiaHP:0007350

Occasional (29-5%)(5)

  • Bulbar signsHP:0002483
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Hand muscle weaknessHP:0030237
  • Spastic tetraparesisHP:0001285