Rare Endocrinology News

Disease Profile

Subacute 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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Other names (AKA)

Cerebellar degeneration, subacute; SCD; Alcoholic cerebellar degeneration;

Summary

Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum).[1] Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration).[2] Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.[2]

Symptoms

Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles.[2]

In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms.[3] Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.[3]

Cause

Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration.[2]

Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin.[4] These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page.
https://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1

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.

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

    Organizations Providing General Support

      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

        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Subacute cerebellar degeneration. Click on the link to view a sample search on this topic.

          References

          1. NINDS Cerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 27, 2008; https://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm. Accessed 10/2/2008.
          2. Cerebellar Degeneration, Subacute. NORD. 2007; https://rarediseases.org/rare-diseases/cerebellar-degeneration-subacute/.
          3. Dalmau J, Rosenfeld MR. Paraneoplastic cerebellar degeneration. In: Basow M. UpToDate. Waltham, MA: UpToDate; 2014; Accessed 10/14/2014.
          4. Kumar N. Neurologic presentations of nutritional deficiencies. Neurol Clin. February 2010; 28(1):107-170. https://www.ncbi.nlm.nih.gov/pubmed/19932379.
          5. NINDS Wernicke-Korsakoff Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Wernicke-Korsakoff-Syndrome-Information-Page.
          6. Dugdale DC. Wernicke-Korsakoff syndrome. MedlinePlus. February, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000771.htm.

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