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Autosomal dominant spastic paraplegia type 36

ORPHA:320365 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(5)

  • Babinski signHP:0003487
  • HyperreflexiaHP:0001347
  • Lower limb spasticityHP:0002061
  • Progressive spastic paraplegiaHP:0007020
  • Spastic gaitHP:0002064

Frequent (79-30%)(10)

  • Demyelinating motor neuropathyHP:0007220
  • Demyelinating sensory neuropathyHP:0011402
  • Distal muscle weaknessHP:0002460
  • Impaired distal proprioceptionHP:0006858
  • Impaired distal tactile sensationHP:0006937
  • Impaired distal vibration sensationHP:0006886
  • Impaired temperature sensationHP:0010829
  • Proximal muscle weaknessHP:0003701
  • Urinary incontinenceHP:0000020
  • Urinary urgencyHP:0000012

Occasional (29-5%)(3)

  • ArthritisHP:0001369
  • Pes cavusHP:0001761
  • StrabismusHP:0000486

Excluded (0%)(2)

  • Abnormal brainstem MRI signal intensityHP:0012747
  • DementiaHP:0000726