Rare Immunology News

Disease Profile

Cerebellar degeneration

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.

Unknown

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

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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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Categories

Nervous System Diseases

Summary

Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (the thin layer of cells covering the brain), and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.[1]

Symptoms

Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus.[1] Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration.[2]

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 screening and treatment of psychiatric disorders.[2]

Cause

Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include:[1]

Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.[1]

Diagnosis

A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known.[6] In cerebellar degeneration caused by acquired (non-genetic and noninherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration.[7]

Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration.[6] For more information on genetic testing for SCA, please click here.

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

There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.[3]

In acquired (non-genetic and noninherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause.[8] For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.[9]

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

    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

      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

        1. 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.
        2. 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.
        3. 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.
        4. Multiple System Atrophy. Genetics Home Reference. January 2012; https://ghr.nlm.nih.gov/condition/multiple-system-atrophy.
        5. Multiple Sclerosis. Genetics Home Reference. April 2013; https://ghr.nlm.nih.gov/condition/multiple-sclerosis.
        6. Autosomal Dominant Hereditary Ataxia. NORD. April 2014; https://rarediseases.org/rare-disease-information/rare-diseases/byID/674/viewFullReport.
        7. Opal P & Zoghbi, HY. The Spinocerebellar Ataxias. UpToDate. 2016; https://www.uptodate.com/contents/the-spinocerebellar-ataxias.
        8. Gonzalez-Usigli HA. Cerebellar Disorders. Merck Manual. August 2013; https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/cerebellar-disorders.
        9. Cerebellar Degeneration, Subacute. NORD. 2007; https://rarediseases.org/rare-diseases/cerebellar-degeneration-subacute/.

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