NORD gratefully acknowledges Ross Reife, MD and Jeffrey Levenson, APBD Research Foundation, for assistance in the preparation of this report.
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.Introduction
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.
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