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Adult polyglucosan body disease (APBD) is a rare, chronically progressive, metabolic disorder with severe neurological expression. It is caused by the abnormal accumulation of microscopic material (polyglucosan bodies), predominantly within the myelinated nerve fibers (motor neurons). The polyglucosan bodies are spherical and composed of large, complex, sugar-based molecules (branched polysaccharides).
The disorder typically affects both upper and lower motor neurons, resulting from nerve damage within the brain and spinal cord (central nervous system) respectively. Symptoms usually begin during middle age or later and usually include muscle weakness, loss of sensation, and/or wasting of muscles (atrophy) in the arms and/or legs. Impaired bladder control (neurogenic bladder) and/or mental confusion (dementia) also occur.
Adult polyglucosan body disease typically affects both upper and lower motor neurons, resulting in nerve damage within the brain and/or spinal cord (central nervous system). Symptoms usually appear in middle age or later and are progressive. Muscle weakness, loss of sensation, and/or wasting of muscles (atrophy) in the arms and/or legs are characteristic of this disorder. People with APBD may also have impaired bladder control (neurogenic bladder) and/or mental confusion (dementia) of varying degrees.
Progressive gait or walking problems as a result of muscle weakness and spasms (spasticity) are primary symptoms. Short, rhythmic, contractions of various muscles that may be evident through the skin and suggest short, electrical discharges of the nerves involved.
Symptoms vary depending on the area of the nervous system affected by the disorder.
Symptoms of adult polyglucosan body disease are the result of the presence of microscopic particles (polyglucosan bodies) in skeletal muscle nerve cells. Polyglucosan bodies may accumulate in nerve cells in the brain and spinal cord (central nervous system) as well as in peripheral nerves and the lung, heart, liver, and/or kidneys. Tissue reduction (atrophy), tissue loss (necrosis), and/or loss of the fatty sheath surrounding nerve fibers (demyelination) may occur. The mechanism by which the polyglucosan bodies cause nerve damage is not clear.
Adult polyglucosan body disease is inherited as an autosomal recessive trait.
Genetic diseases are determined by the combination of genes for a particular trait which are on the chromosomes received from the father and the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
Because there is a distinct subset of patients with APBD who also have glycogen storage disease IV (Andersen disease or GSD IV), some clinicians have suggested that the same inherited defect in the metabolism of carbohydrates (branching enzyme dysfunction) responsible for GSD IV may also be the cause of APBD in some cases.
APBD is a very rare disorder that appears to affect males and females in about equal proportions. Familial clustering is observed in about 30% of cases especially among Ashkenazi Jewish populations. About 50 ± cases have been reported in the medical literature.
The group of Ashkenazi Jews who have contracted this disorder all show a specific mutation on the glycogen-branching enzyme gene. This same gene is responsible for the metabolic disorder known as glycogen storage disease IV (GSD-IV) or Andersen disease. Based on this observation, some clinicians believe that APBD is the adult form of GSD-IV which is a metabolic disorder of early childhood. There remains some controversy about this idea.
Symptoms of the following disorders can be similar to those of Adult Polyglucosan Body Disease. Comparisons may be useful for a differential diagnosis:
Amyotrophic lateral sclerosis (ALS) is a rare disease of the skeletal muscle nerve cells (motor neurons). This disorder generally affects both upper and lower motor neurons resulting in muscular weakness and the progressive wasting of muscles that have lost their nerve supply. The early symptoms of amyotrophic lateral sclerosis (ALS) include slight muscle weakness, clumsy hand movements, and/or difficulty performing tasks that require delicate movements of the fingers and/or hands. Muscular weakness in the legs may cause tripping and falling. As the disease progresses, people with amyotrophic lateral sclerosis may have difficulty swallowing (dysphagia), and speech may be slowed. Amyotrophic lateral sclerosis may progress quickly or slowly, and gradually additional muscles become involved. There are a number of different forms of amyotrophic lateral sclerosis and other motor neuron diseases with similar symptoms. Diagnosis is made by muscle biopsy and electromyographic testing. (For more information on this disorder, choose "Amyotrophic Lateral Sclerosis" as your search term in the Rare Disease Database.)
Lafora disease is a rare inherited neurological disorder characterized by the presence of amyloid bodies (Lafora bodies) with cells of the brain, heart, and liver. Symptoms, due to the accumulation of Lafora bodies, usually begin during late adolescence. These may include grand mal seizures and sudden, involuntary muscle contractions (myoclonic seizures). As the disease progresses, the seizures become less frequent and involuntary muscle contractions increase in intensity. Rapid loss of intellectual capacity follows and leads to dementia.
Kugelberg-Welander syndrome (juvenile spinal muscular atrophy) is a rare inherited neurological disorder characterized by a progressive degeneration of the motor neurons. The symptoms of this disorder begin in childhood and may include progressive weakness and loss of muscle tissue, especially in the legs, and an uncoordinated gait. This is typically accompanied by a loss of reflexes in the legs. (For more information on this disorder, choose "Kugelberg-Welander" as your search term in the Rare Disease Database.)
Motor neuron disease is a group of serious disorders characterized by progressive degeneration of motor neurons (neurons combine to form nerves). Motor neurons control the behavior of muscles. Motor neuron diseases may affect nerves that lead from the brain to the brain stem or to the spinal cord (upper motor neurons), or the nerves that lead from the spinal cord to the muscles of the body (lower motor neurons), or both. Spasms and exaggerated reflexes indicate damage to the upper motor neurons. A progressive wasting (atrophy) and weakness of muscles which have lost their nerve supply indicate damage to the lower motor neurons. Generally, a motor neuron disease is characterized by muscle weakness, wasting (atrophy), and normal intellectual functioning. (For more information on these disorders, choose "Motor Neuron" as your search term in the Rare Disease Database.)
While a neurologist’s thorough examination is essential to focusing diagnostic attention on APBD, it is through the direct examination of tissue by a pathologist (electron and light microscopy) that a definitive diagnosis is made. The examination of skin, muscle and/or nerve samples (biopsy) reveals the presence of certain particles called polyglucosan bodies. These bodies may also be present in other disorders and may occur in the normal course of aging. However, in cases of APBD the polyglucosan bodies are mostly and almost uniquely in the fibers extending from nerve cells (axons) as opposed to the body of the cells. The presence of the spheroid, polyglucosan bodies in the fibers is key to the diagnosis. Magnetic resonance imaging (MRI) may show abnormalities in the conduction tissue (white matter) of the brain.
Treatment of adult polyglucosan body disease generally requires a team approach and may include physicians, physical therapists, medical social workers, and nurses. Devices that help affected people continue daily activities, such as braces, hand splints, limb supports, or wheelchairs, are important. Affected individuals who are restricted to bed may be made more comfortable with adjustable beds, water mattresses, and/or sheepskin mattress pads.
Genetic counseling may be of benefit for people with adult polyglucosan body disease and their families.
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FROM THE INTERNET
Adult polyglucosan body disease. The Doctor’s Doctor. Last Updated: 4/4/2001. 4pp.
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Polyglucosan Body Disease, Adult Form; APBD. Entry Number; 263570: Last Edit Date; 4/8/1994.
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Report last updated: 2008/02/05 00:00:00 GMT+0