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Disease Profile

Adult polyglucosan body disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

E74.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

APBD; Polyglucosan body disease, adult form; Polyglucosan body neuropathy, adult form;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Heart Diseases;

Summary

Adult polyglucosan body disease (APBD) affects the nervous system.[1] People with this disease usually begin to show signs after the age of 40.[2] Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness. People with APBD also develop problems with bladder control due to damage to the bladder's nerves (neurogenic bladder). About half of people with APBD also develop dementia.[1][2] APBD can be caused by mutations in the GBE1 gene and inheritance is autosomal recessive. In some cases, the cause is not known.[1] Treatment aims to improve quality of life by controlling each symptom of the disease.[2] APBD likely shortens life expectancy, but with symptom management and supportive care, people with APBD can have years of productive life.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pyramidal sign
0007256
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Hemiparesis
Weakness of one side of body
0001269
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscle weakness
Muscular weakness
0001324
Neurogenic bladder
Lack of bladder control due to nervous system injury
0000011
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Urinary bladder sphincter dysfunction
0002839
Urinary incontinence
Loss of bladder control
0000020
30%-79% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708
Distal sensory impairment
Decreased sensation in extremities
0002936
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Abnormality of extrapyramidal motor function
0002071
Ataxia
0001251
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
EMG abnormality
0003457
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Percent of people who have these symptoms is not available through HPO
Abnormal upper motor neuron morphology
Abnormal shape of upper motor neuron
0002127
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality

[ more ]

0001939
Abnormality of the cerebral white matter
0002500
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance
0000007
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Peripheral axonal neuropathy
0003477
Slow progression
Signs and symptoms worsen slowly with time
0003677
Spastic paraplegia
0001258
Tetraparesis
0002273

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus Genetics contains information on Adult polyglucosan body disease. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
      • 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.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Adult polyglucosan body disease. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Adult polyglucosan body disease. Genetics Home Reference (GHR). July, 2016; https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease.
            2. Klein, Christopher. Adult Polyglucosan Body Disease. GeneReviews. December 19, 2013; https://www.ncbi.nlm.nih.gov/books/NBK5300/. Accessed 9/22/2015.
            3. Adult Polyglucosan Body Disease. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/adult-polyglucosan-body-disease/.