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Disease Profile
Cerebellar 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.
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Categories
Nervous System Diseases
Summary
Cerebellar degeneration refers to the deterioration of neurons (nerve
Symptoms
Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from
Cause
- Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures.
- Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum.
- Spinocerebellar ataxias, including Friedreich ataxia, are caused by
inherited changes (mutations ) in many differentgenes and are characterized bycell death in the cerebellum, brain stem, and spinal cord. - Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal
proteins . - Multiple sclerosis occurs when the insulating membrane (
myelin ) that wraps around and protects nerve cells (including those of the cerebellum) become damaged.
Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.[1]
Diagnosis
For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited).[1] Genetic testing is not an option for people with these conditions.
Treatment
In acquired (non-genetic and non
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
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Friedreich's Ataxia Research Alliance (FARA)
533 W. Uwchlan Ave.
Downingtown, PA 19335
Telephone: (484) 879-6160
Fax: (484) 872-1402
E-mail: [email protected]
Website: https://www.curefa.org/ -
National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: [email protected]
Website: https://ataxia.org/ -
National Multiple Sclerosis Society
733 Third Avenue, 6th Floor
New York, NY 10017-3288
Toll-free: 1-800-344-4867 (FIGHTMS)
Telephone: +1-212-986-3240
Fax: +1-212-986-7981
E-mail: [email protected]
Website: https://www.nationalmssociety.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 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
- The Merck Manual for health care professionals provides information on Cerebellar degeneration.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebellar degeneration. Click on the link to view a sample search on this topic.
References
- Cerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. February 2014; https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Degeneration-Information-Page.
- Study Finds Psychiatric Disorders are Common in People with Cerebellar Degeneration. National Institute of Neurological Disorders and Stroke (NINDS). March 8, 2005; https://www.ninds.nih.gov/news_and_events/news_articles/news_article_cerebellar.htm.
- Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Ataxias-and-Cerebellar-or-Spinocerebellar-Degeneration-Information-Page.
- Multiple System Atrophy. Genetics Home Reference. January 2012; https://ghr.nlm.nih.gov/condition/multiple-system-atrophy.
- Multiple Sclerosis. Genetics Home Reference. April 2013; https://ghr.nlm.nih.gov/condition/multiple-sclerosis.
- Autosomal Dominant Hereditary Ataxia. NORD. April 2014; https://rarediseases.org/rare-disease-information/rare-diseases/byID/674/viewFullReport.
- Opal P & Zoghbi, HY. The Spinocerebellar Ataxias. UpToDate. 2016; https://www.uptodate.com/contents/the-spinocerebellar-ataxias.
- Gonzalez-Usigli HA. Cerebellar Disorders. Merck Manual. August 2013; https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/cerebellar-disorders.
- Cerebellar Degeneration, Subacute. NORD. 2007; https://rarediseases.org/rare-diseases/cerebellar-degeneration-subacute/.
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