Adult polyglucosan body disease

Adult polyglucosan body disease (APBD) affects the nervous system. People with this disease usually begin to show signs after the age of 40. 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. APBD can be caused by mutations in the _GBE1 _gene and inheritance is autosomal recessive. In some cases, the cause is not known. Treatment aims to improve quality of life by controlling each symptom of the disease. APBD likely shortens life expectancy, but with symptom management and supportive care, people with APBD can have years of productive life.

Polyglucosan body disease is a progressive neurological disorder that results in dysfunction of the upper and lower motor neurons. The motor neurons are the cells in our nervous system that control voluntary muscle action such as walking.

Generalized fatigue can be associated with motor neuron dysfunction, as well as neurological disorders in general.

The Brain and Spine Foundation, a source of information and support for individuals with neurological conditions, provides information on Fatigue and neurological conditions. Additionally, 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.

The exact prevalence of adult polyglucosan body disease (APBD) is unknown, but the disease is considered rare. At least 70 people with APBD have been reported in the medical literature. The disease appears to affect males and females equally.

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."

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.

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.