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Autosomal recessive spastic paraplegia type 5A

ORPHA:100986 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(5)

  • Babinski signHP:0003487
  • Impaired vibratory sensationHP:0002495
  • Lower limb muscle weaknessHP:0007340
  • Lower limb spasticityHP:0002061
  • Spastic paraplegiaHP:0001258

Frequent (79-30%)(6)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the urinary systemHP:0000079
  • Ankle clonusHP:0011448
  • Lower limb amyotrophyHP:0007210
  • Pes cavusHP:0001761

Occasional (29-5%)(3)

  • Atrophy of the spinal cordHP:0006827
  • Limb ataxiaHP:0002070
  • Truncal ataxiaHP:0002078

Very rare (<4-1%)(10)

  • CataractHP:0000518
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • NystagmusHP:0000639
  • PolyneuropathyHP:0001271
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Upper limb amyotrophyHP:0009129
  • Upper limb muscle weaknessHP:0003484
  • Upper limb spasticityHP:0006986