Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.
Mutations in the GBE1 gene cause APBD. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most GBE1 gene mutations that cause APBD result in a shortage (deficiency) of the glycogen branching enzyme, which leads to the production of abnormal glycogen molecules. These abnormal glycogen molecules, called polyglucosan bodies, accumulate within cells and cause damage. Nerve cells (neurons) appear to be particularly vulnerable to the accumulation of polyglucosan bodies in people with this disorder, leading to impaired neuronal function.
APBD is a rare condition, although its exact prevalence is unknown. Approximately 200 affected individuals have been diagnosed worldwide. Recently these have included younger individuals who have not yet experienced signs or symptoms but who are diagnosed in the course of genetic screening when considering parenthood. Researchers suspect that the disorder may be underdiagnosed.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Or Kakhlon is in Jerusalem, Israel. Kakhlon is rated as an Elite expert by MediFind in the treatment of Adult Polyglucosan Body Disease. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Adult Polyglucosan Body Disease, Pompe Disease, Andersen Disease, and Neurogenic Bladder.
Charulatha Nagar is a Neurologist in Lake Forest, Illinois. Dr. Nagar has been practicing medicine for over 33 years and is rated as a Distinguished doctor by MediFind in the treatment of Adult Polyglucosan Body Disease. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Adult Polyglucosan Body Disease, Andersen Disease, Myasthenia Gravis, and Migraine. She is licensed to treat patients in Illinois. Dr. Nagar is currently accepting new patients.
Berge Minassian is a Pediatrics specialist and a Neurologist in Dallas, Texas. Dr. Minassian has been practicing medicine for over 30 years and is rated as a Distinguished doctor by MediFind in the treatment of Adult Polyglucosan Body Disease. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, Epilepsy with Myoclonic-Atonic Seizures, and Myoclonus Epilepsy Partial Seizure. He is licensed to treat patients in Texas. Dr. Minassian is currently accepting new patients.
Published Date:updated Last, September
Published By: National Institutes of Health
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