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Gerstmann-Straussler-Scheinker syndrome

ORPHA:356 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(4)

  • Cognitive impairmentHP:0100543
  • DysesthesiaHP:0012534
  • Gait ataxiaHP:0002066
  • Lower limb muscle weaknessHP:0007340

Frequent (79-30%)(13)

  • Abnormal central sensory functionHP:0011730
  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal pyramidal tract morphologyHP:0002062
  • Abnormality of extrapyramidal motor functionHP:0002071
  • AcroparesthesiaHP:0031006
  • AreflexiaHP:0001284
  • Brain imaging abnormalityHP:0410263
  • DementiaHP:0000726
  • Diminished deep tendon reflexHP:0001315
  • DysarthriaHP:0001260
  • Mental deteriorationHP:0001268
  • ParesthesiaHP:0003401
  • Sleep disturbanceHP:0002360

Occasional (29-5%)(1)

  • Limb myoclonusHP:0045084