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Disease Profile
Corticobasal degeneration
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.
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Age of onset
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ICD-10
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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)
Cortical-Basal Ganglionic degeneration; Cortico-Basal Ganglionic Degeneration (CBGD); CBGD;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Corticobasal degeneration is characterized by the break down (degeneration) of parts of the brain, including the cerebral cortex and basal ganglia. The cerebral cortex is responsible for most of the brain's processing of information, and the basal ganglia are deep brain structures that help start and control movement. Signs and symptoms of corticobasal degeneration include poor coordination, loss of movement, rigidity, poor balance, unnatural posturing of the muscles, intellectual (cognitive) impairment, speech impairment, muscular jerks, and difficulty swallowing. These symptoms develop and worsen over time. Currently the cause of corticobasal degeneration is not known.[1] Treatment depends on the symptoms in each person. People with corticobasal degeneration usually do not survive beyond an average of 7 years after symptoms begin. Aspiration pneumonia or other complications are usually the cause of death.[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 | ||
Parkinsonism | 0001300 | |
Progressive extrapyramidal muscular rigidity | 0007158 | |
30%-79% of people have these symptoms | ||
Akinesia | 0002304 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Frontal release signs | 0000743 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Limb apraxia | 0030217 | |
Limb |
0002451 | |
Limb myoclonus | 0045084 | |
Oromotor apraxia | 0007301 | |
Postural instability |
Balance impairment
|
0002172 |
Sensory impairment | 0003474 | |
Tremor | 0001337 | |
5%-29% of people have these symptoms | ||
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Dysphasia | 0002357 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Speech apraxia | 0011098 | |
1%-4% 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 |
Cause
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
-
Association for Frontotemporal Degeneration (AFTD)
2700 Horizon Drive, Suite 120
King of Prussia, PA 19406
Toll-free: 1-866-507-7222
Telephone: +1-267-514-7221
E-mail: [email protected]
Website: https://www.theaftd.org/ -
CurePSP
1216 Broadway, 2nd Floor
New York, NY 10001
Toll-free: 1-800-457-4777
Telephone: +1-347-294-2873 (CURE)
Fax: +1-410-785-7009
E-mail: [email protected]
Website: https://www.psp.org/ -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.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
- The University of California San Francisco Web site has an information page on this topic. Click on the link above to view the information page.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Corticobasal degeneration. Click on the link to view a sample search on this topic.
References
- NINDS Corticobasal Degeneration Information Page. National Institute of Neurological Disorders and Stroke. February 6, 2015; https://www.ninds.nih.gov/Disorders/All-Disorders/Corticobasal-Degeneration-Information-Page.
- A M Barrett. Cortical Basal Ganglionic Degeneration. Medscape Reference. June 3, 2014; https://emedicine.medscape.com/article/1150039-overview.
- Lee S. Corticobasal Degeneration. National Organization for Rare Disorders (NORD). 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1009/viewAbstract.
- Factor SA, Walls DG. Corticobasal degeneration. UpToDate. Waltham, MA: UpToDate; June 15, 2016;
- Corticobasal syndrome. The Association for Frontotemporal Degeneration. 2017; https://www.theaftd.org/understandingftd/disorders/corticobasal-degeneration.
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