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Polyglucosan body disease, adult form

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Polyglucosan body disease, adult
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Is fatigue a common symptom of polyglucosan body disease?

What is polyglucosan body disease?
Is fatigue a common symptom of polyglucosan body disease?

What is polyglucosan body disease? (Back to Top)
Polyglucosan body disease is a slowly progressive metabolic disorder. It is caused by excessive accumulation of polyglucosan bodies in tissues, including nerve, muscle, liver, kidney, and lung. The disease can cause neurogenic bladder, dementia, loss of feeling in the lower limbs, and upper and lower motor neuron dysfunction.^[1] A variety of different biochemical defects may cause polyglucosan body disease. Glycogen branching enzyme (GBE) deficiency has been identified as the cause in some patients.^[2] Treatment of people with polyglucosan body disease is generally supportive, addressing symptoms such as walking impairment, incontinence, and dementia.^[1]
Last Reviewed: 12/2/2008
Is fatigue a common symptom of polyglucosan body disease? (Back to Top)
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.^[3] 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 Reviewed: 12/2/2008

References (Back)

Klein CM. NORD Guide to Rare Disorders. In: . Adult Polyglucosan Body Disease. :; 2003:
Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic, and molecular studies. Curr Mol Med. 2002 Mar.
Krivickas LS. Essentials of Physical Medicine and Rehabilitation, 2nd ed. In: . Motor Neuron Disease. Philadelpia PA:Saunders; 2008:

More Information (Found: 9 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
  - The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    
    eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    
    The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    
    The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Polyglucosan body disease, adult. Click on the link to go to OMIM and review these resources.
    
    PubMed lists journal articles that discuss Polyglucosan body disease, adult. Click on the link to go to PubMed and review citations to these articles.
    
    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.
    
    Genetics Home Reference (GHR) contains a gene summary on glycogen branching enzyme (GBE1). Mutations in this gene are associated with adult polyglucosan body disease in some patients. Click on the link to go to GHR and review this summary
- Selected Full-Text Journal Articles
  - 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."
Support Groups (Found: 6 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
  - Genetic Alliance
    4301 Connecticut Avenue NW
    Suite 404
    Washington, DC 20008-2369
    Telephone: 202-966-5557
    Fax: 202-966-8553
    E-mail: info@geneticalliance.org
    Web site: http://www.geneticalliance.org
    
    National Organization for Rare Disorders (NORD)
    55 Kenosia Avenue
    PO Box 1968
    Danbury, CT 06813-1968
    Toll-free: 1-800-999-6673 (voicemail only)
    Telephone: 203-744-0100
    TTY: 203-797-9590
    Fax: 203-798-2291
    E-mail: orphan@rarediseases.org
    Web site: http://www.rarediseases.org/
- Disease-Specific Organizations
  - APBD Research Foundation
    8 West 37th Street
    New York, NY 10018
    Phone: 212-643-1221
    Fax: 212-643-0963
    E-mail: info@APBDRF.org
    Web site: http://www.apbdrf.org
    
    Association for Glycogen Storage Disease
    PO Box 896
    Durant IA 52747
    Phone: 563-785-6038
    Email: maryc@agsdus.org
    Web site: www.agsdus.org
- Live Chat
  - The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    
    RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
  - GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Genetic Services
  - We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
    
    * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
    
    * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
- - The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.

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