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Sporadic Creutzfeldt-Jakob disease

ORPHA:204 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(5)

  • Akinetic mutismHP:0012672
  • Cerebral cortex with spongiform changesHP:0006790
  • DementiaHP:0000726
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • Neuronal loss in central nervous systemHP:0002529

Frequent (79-30%)(16)

  • AstrocytosisHP:0002446
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cerebral atrophyHP:0002059
  • Cognitive impairmentHP:0100543
  • ConfusionHP:0001289
  • GliosisHP:0002171
  • HypsarrhythmiaHP:0002521
  • Increased CSF protein concentrationHP:0002922
  • Memory impairmentHP:0002354
  • MyoclonusHP:0001336
  • Recurrent aspiration pneumoniaHP:0002100
  • Recurrent infectionsHP:0002719
  • Respiratory failure requiring assisted ventilationHP:0004887
  • SepsisHP:0100806
  • Visual hallucinationHP:0002367

Occasional (29-5%)(16)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of extrapyramidal motor functionHP:0002071
  • ApathyHP:0000741
  • Babinski signHP:0003487
  • DepressionHP:0000716
  • Emotional labilityHP:0000712
  • FatigueHP:0012378
  • HeadacheHP:0002315
  • Hyperactive deep tendon reflexesHP:0006801
  • IrritabilityHP:0000737
  • Loss of speechHP:0002371
  • Sleep disturbanceHP:0002360
  • SpasticityHP:0001257
  • Upper motor neuron dysfunctionHP:0002493
  • VertigoHP:0002321
  • Visual impairmentHP:0000505