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Autosomal dominant spastic paraplegia type 37

ORPHA:171612 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(2)

  • Degeneration of the lateral corticospinal tractsHP:0002314
  • Progressive spastic paraplegiaHP:0007020

Frequent (79-30%)(6)

  • Babinski signHP:0003487
  • HyperreflexiaHP:0001347
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Lower limb muscle weaknessHP:0007340
  • Lower limb spasticityHP:0002061
  • Spinal cord lesionHP:0100561

Occasional (29-5%)(8)

  • ClonusHP:0002169
  • FatigueHP:0012378
  • Gait disturbanceHP:0001288
  • Muscle spasmHP:0003394
  • Pes cavusHP:0001761
  • Spastic gaitHP:0002064
  • Upper limb hyperreflexiaHP:0007350
  • Urinary urgencyHP:0000012

Excluded (0%)(4)

  • Abnormal cerebrospinal fluid morphologyHP:0002921
  • Abnormal lower-limb motor evoked potentialsHP:0012898
  • EMG abnormalityHP:0003457
  • SeizureHP:0001250