Adult Polyglucosan Body Disease
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Adult Polyglucosan Body Disease is not the name you expected.
Adult polyglucosan body disease (APBD) is a rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme, resulting in the accumulation of polyglucosan bodies in muscle, nerve and various other tissues of the body. Polyglucosan bodies are spherical and composed of large, complex, sugar-based molecules. Adult polyglucosan body disease may be characterized by dysfunction of the central and peripheral nervous systems. The central nervous system (CNS) refers to the brain and spinal cord. The peripheral nerves extend from the CNS to muscles, glands, skin, sensory organs, and internal organs. Peripheral nerves include motor nerves; sensory nerves; and nerves of the autonomic nervous system, which are involved in involuntary body functions. In individuals with adult polyglucosan body disease, associated symptoms and findings may include sensory loss in the legs; progressive muscle weakness of the arms and legs; walking (gait) disturbances; progressive urinary difficulties; mild cognitive impairment or dementia; and/or other abnormalities. Adult polyglucosan body disease is caused by mutations in the GBE1 gene and is inherited as an autosomal recessive disorder.
Adult polyglucosan body disease was first described in the medical literature as a clinical entity in 1980 (Robitaille Y et. al). The mutation that causes the disorder is in the same gene that causes Alexander disease (glycogen storage disease type IV), a severe neurological disorder that affects infants.
APBD Research Foundation
- 2710 Avenue S
- Brooklyn, NY 11229
- Tel: 646-580-5610
- Fax: 212-643-0963
- Email: info@APBDRF.org
- Website: http://www.apbdrf.org
Association for Glycogen Storage Disease
- P.O. Box 896
- Durant, IA 52747
- Tel: (563)514-4022
- Fax: (563)514-4022
- Email: email@example.com
- Website: http://www.agsdus.org
Association for Glycogen Storage Disease (UK) Ltd
- Old Hambledon Racecourse
- Sheardley Lane, Droxford
- Hampshire, SO32 3QY
- United Kingdom
- Tel: 3001232790
- Email: firstname.lastname@example.org
- Website: http://www.agsd.org.uk
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 9/24/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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