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Disease Profile
Adult polyglucosan body disease
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
Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
|
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 |
|
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 | |
| 0001251 | ||
|
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 |
| 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 | |
Related diseases
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.
|
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
-
APBD Research Foundation
2257 East 63rd Street
Brooklyn, NY 11234
Telephone: 646-580-5610
E-mail: [email protected]
Website: https://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: [email protected]
Website: https://www.alextlc.org
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
- 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."
References
- Adult polyglucosan body disease. Genetics Home Reference (GHR). July, 2016; https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease.
- Klein, Christopher. Adult Polyglucosan Body Disease. GeneReviews. December 19, 2013; https://www.ncbi.nlm.nih.gov/books/NBK5300/. Accessed 9/22/2015.
- Adult Polyglucosan Body Disease. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/adult-polyglucosan-body-disease/.