Adult polyglucosan body disease

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Disease Overview

Adult polyglucosan body disease (APBD) affects the nervous system.[9675] People with this disease usually begin to show signs after the age of 40.[9676] Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder’s nerves (neurogenic bladder). About half of people with APBD also develop dementia.[9675][9676] APBD can be caused by mutations in the GBE1 gene and inheritance is autosomal recessive. In some cases, the cause is not known.[9675] Treatment aims to improve quality of life by controlling each symptom of the disease.[9676] APBD likely shortens life expectancy, but with symptom management and supportive care, people with APBD can have years of productive life.[9676]


Synonyms

  • APBD
  • Polyglucosan body disease, adult form
  • Polyglucosan body neuropathy, adult form
  • APBN

For more information, visit GARD.

National Organization for Rare Disorders