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Adult polyglucosan body disease


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Other Names:
APBD; Polyglucosan body disease, adult form; Polyglucosan body neuropathy, adult form; APBD; Polyglucosan body disease, adult form; Polyglucosan body neuropathy, adult form; APBN See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Heart Diseases; Congenital and Genetic Diseases; Digestive Diseases; Heart Diseases; Metabolic disorders; Nervous System Diseases See More

Summary Summary


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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]
Last updated: 11/29/2017

Symptoms Symptoms


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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.

Showing of 29 |
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
Showing of 29 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Statistics Statistics


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The exact prevalence of adult polyglucosan body disease (APBD) is unknown, but the disease is considered rare. At least 70 people with APBD have been reported in the medical literature.[1] The disease appears to affect males and females equally.[3]
Last updated: 11/29/2017
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The motor neuron dysfunction seen in APBD may be similar to that seen in amyotrophic lateral sclerosis (see this term). Primary urologic dysfunction, multiple sclerosis and Alzheimer's disease should also be considered, as well as other causes of adult onset myeloneuropathy and leukoencephalopathy.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Adult polyglucosan body disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Adult polyglucosan body disease:
    APBDRF FAN Natural History Study
     

Organizations Organizations


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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

  • APBD Research Foundation
    2257 East 63rd Street
    Brooklyn, NY 11234
    Telephone: 646-580-5610
    E-mail: info@APBDRF.org
    Website: http://www.apbdrf.org

Organizations Providing General Support

  • Alex The Leukodystrophy Charity (Alex TLC)
    45 Peckham High Street
    London, SE15 5EB United Kingdom
    Telephone: 020 7701 4388
    E-mail: info@alextlc.org
    Website: https://www.alextlc.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • Robertson NP, Wharton S, Anderson J, Scoldinga NJ. Adult polyglucosan body disease associated with an extrapyramidal syndrome. J Neurol Neurosurg Psychiatry. 1998;65:788-790. You may need to register to view the article, but registration is free. To register click on the link above and select "Register for Access."

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is fatigue a common symptom of polyglucosan body disease? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Adult polyglucosan body disease. Genetics Home Reference (GHR). July, 2016; http://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease.
  2. Klein, Christopher. Adult Polyglucosan Body Disease. GeneReviews. December 19, 2013; http://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/.
Do you know of a review article? We want to hear from you.
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rare disease research!
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