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Spastic paraplegia-Paget disease of bone syndrome

ORPHA:329475 · Disease · Disorder

HPO 表現型（共 15 項）

Obligate (100%)(8)

  • Babinski signHP:0003487
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • EMG: neuropathic changesHP:0003445
  • Gait disturbanceHP:0001288
  • Generalized muscle weaknessHP:0003324
  • Lower limb hyperreflexiaHP:0002395
  • Spastic gaitHP:0002064
  • Spastic paraplegiaHP:0001258

Very frequent (99-80%)(5)

  • Abnormal skeletal morphologyHP:0011842
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • Increased spinal bone densityHP:0004563
  • Recurrent fracturesHP:0002757

Frequent (79-30%)(2)

  • Limb fasciculationsHP:0007289
  • Tongue fasciculationsHP:0001308