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Diseases

Genetic and Rare Diseases Information Center (GARD)

Polyglucosan body disease, adult


Other Names for this Disease
  • APBD
  • Polyglucosan body disease, adult form
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Your Question

Is fatigue a common symptom of polyglucosan body disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is fatigue a common symptom of polyglucosan body disease?

Polyglucosan body disease is a progressive neurological disorder that results in upper and lower motor neuron dysfunction. Generalized fatigue can be associated with motor neuron dysfunction as with neurological disorders in general.[1] Fatigue is not an uncommon complaint in people with these disorders.

The following articles provide additional information on this topic. A link to the article abstract is provided below.

Chaudhuri A, Behan PO. Fatigue in neurological disorders. Lancet. 2004 Mar 20;363(9413):978-88.

Krupp LB, Pollina DA. Mechanisms and management of fatigue in progressive neurological disorders. Curr Opin Neurol. 1996 Dec;9(6):456-60.

To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the links above. The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated: 12/2/2008

What is polyglucosan body disease?

Polyglucosan body disease affects the nervous system.[2] Individuals with this condition usually begin to show signs of the disorder after the age of 40.[3] 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.[2][3] 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.[2] Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner.[2][3] Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment.[3]



Last updated: 9/22/2015

References
Other Names for this Disease
  • APBD
  • Polyglucosan body disease, adult form
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.