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Adult polyglucosan body disease

Disease definition

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

ORPHA:206583

  • Synonym(s):
    • APBD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E74.0
  • OMIM: 263570
  • UMLS: -
  • MeSH: -
  • GARD: 108
  • MedDRA: -

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