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Adult polyglucosan body disease

ORPHA:206583 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(10)

  • Abnormal pyramidal signHP:0007256
  • Gait disturbanceHP:0001288
  • HemiparesisHP:0001269
  • Intellectual disabilityHP:0001249
  • Muscle weaknessHP:0001324
  • Neurogenic bladderHP:0000011
  • Peripheral neuropathyHP:0009830
  • SpasticityHP:0001257
  • Urinary bladder sphincter dysfunctionHP:0002839
  • Urinary incontinenceHP:0000020

Frequent (79-30%)(3)

  • Atypical behaviorHP:0000708
  • Distal sensory impairmentHP:0002936
  • Skin ulcerHP:0200042

Occasional (29-5%)(5)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • AtaxiaHP:0001251
  • DementiaHP:0000726
  • EMG abnormalityHP:0003457
  • Limitation of joint mobilityHP:0001376