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Spinal fast-flow vascular malformation

ORPHA:715025 · Clinical group · Group of disorders

HPO 表現型（共 33 項）

Very frequent (99-80%)(7)

  • Abnormal subarachnoid space morphologyHP:0012703
  • Abnormality of the nervous systemHP:0000707
  • Arteriovenous fistulaHP:0004947
  • Hyperintensity of MRI T2 signal of the spinal cordHP:0040272
  • MyelopathyHP:0002196
  • Spinal cord lesionHP:0100561
  • Venous malformationHP:0012721

Frequent (79-30%)(6)

  • AreflexiaHP:0001284
  • Back painHP:0003418
  • HyperreflexiaHP:0001347
  • Muscle weaknessHP:0001324
  • MyelitisHP:0012486
  • Progressive spastic paraparesisHP:0007199

Occasional (29-5%)(18)

  • Bowel incontinenceHP:0002607
  • Colonic inertiaHP:0012423
  • Distal lower limb muscle weaknessHP:0009053
  • DysesthesiaHP:0012534
  • Female sexual dysfunctionHP:0030014
  • Frequent fallsHP:0002359
  • Functional abnormality of the bladderHP:0000009
  • Gait disturbanceHP:0001288
  • Gait imbalanceHP:0002141
  • Low back painHP:0003419
  • Lower limb muscle weaknessHP:0007340
  • Male sexual dysfunctionHP:0040307
  • Neurogenic bladderHP:0000011
  • ParesthesiaHP:0003401
  • Somatic sensory dysfunctionHP:0003474
  • Unsteady gaitHP:0002317
  • Urinary incontinenceHP:0000020
  • Urinary retentionHP:0000016

Very rare (<4-1%)(2)

  • Cervical myelopathyHP:0002318
  • Distal lower limb amyotrophyHP:0008944