Polyglucosan body disease, adult
Other Names for this Disease
- Polyglucosan body disease, adult form
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 Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment.Polyglucosan body disease affects the nervous system.
Last updated: 9/22/2015
- Adult polyglucosan body disease. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease. Accessed 9/22/2015.
- Klein, Christopher. Adult Polyglucosan Body Disease. GeneReviews. December 19, 2013; http://www.ncbi.nlm.nih.gov/books/NBK5300/. Accessed 9/22/2015.
- Genetics Home Reference (GHR) contains information on Polyglucosan body disease, adult. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Doctor’s Doctor, a Web site created by pathologists, has developed an information page on adult polyglucosan body disease which can be accessed by clicking on the link above.
- The Neuromuscular Disease Center of Washington University Web site outlines a variety of neurological conditions including polyglucosan body disease. Click on Neuromuscular Disease Center to view the outline.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Polyglucosan body disease, adult. Click on the link to view a sample search on this topic.
- Robertson NP, Wharton S, Anderson J, Scoldinga NJ. Adult polyglucosan body disease associated with an extrapyramidal syndrome. J Neurol Neurosurg Psychiatry. 1998;65:788-790. You may need to register to view the article, but registration is free. To register click on the link above and select "Register for Access."