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Autosomal dominant spastic paraplegia type 3

ORPHA:100984 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(4)

  • Babinski signHP:0003487
  • Distal lower limb muscle weaknessHP:0009053
  • Lower limb hyperreflexiaHP:0002395
  • Lower limb spasticityHP:0002061

Frequent (79-30%)(4)

  • Ankle clonusHP:0011448
  • Distal lower limb amyotrophyHP:0008944
  • Gait disturbanceHP:0001288
  • Spastic gaitHP:0002064

Occasional (29-5%)(5)

  • Impaired vibratory sensationHP:0002495
  • Motor delayHP:0001270
  • Peripheral neuropathyHP:0009830
  • Tip-toe gaitHP:0030051
  • Urinary urgencyHP:0000012

Very rare (<4-1%)(7)

  • BradykinesiaHP:0002067
  • DysarthriaHP:0001260
  • Frequent fallsHP:0002359
  • Growth delayHP:0001510
  • HyperesthesiaHP:0100963
  • Lower limb hypertoniaHP:0006895
  • RigidityHP:0002063