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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 5


Other Names for this Disease

  • SCA5
  • Spinocerebellar ataxia type 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is spinocerebellar ataxia 5 diagnosed?

Once a hereditary ataxia is considered in a person, several factors are involved in finding the specific type of ataxia present. These include the person's medical history, a physical examination, a neurologic examination, neuroimaging, a detailed family history, and molecular genetic testing.[1] In a person with ataxia and a family history consistent with autosomal dominant inheritance, it is hard to find the exact diagnosis without genetic testing. This is because there is so much overlap of symptoms between all the forms of hereditary ataxia.[1]

Most labs that test for hereditary ataxias have a panel of tests that include testing for the forms that are most common and are known to be associated with specific genes and mutations. These forms may include SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, SCA14, and SCA17 (these are all associated with a specific type of mutation called a repeat expansion). Many labs offer them as groups in a step-wise fashion based on how commonly they occur. Testing can also be done for other autosomal dominant forms that are not associated with repeat expansions, including SCA5.[1] If a specific type of SCA is already known to occur in a family member based on genetic testing, a person can have testing only for that specific type of SCA.

It is important to note that genetic testing may not always give a clear diagnosis, because genetic testing is not yet available for all hereditary ataxias. If a person who clearly has a hereditary ataxia has a normal genetic test result, they might have a type of SCA for which testing is not available.[2]

People who have questions about a diagnosis of SCA and genetic testing for themselves or family members should speak with a neurologist and/or a genetics professional.
Last updated: 6/13/2014

References
  1. Thomas D Bird. Hereditary Ataxia Overview. GeneReviews. April 3, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1138/. Accessed 6/16/2014.
  2. Corrine O’Sullivan Smith, Sara J. Michelson, Robin L. Bennett, Thomas D. Bird. Spinocerebellar Ataxia: Making an Informed Choice About Genetic Testing. University of Washington Medical Center. November, 2004; http://depts.washington.edu/neurolog/images/neurogenetics/ataxia.pdf. Accessed 6/16/2014.
  3. Cassandra L. Kniffin. SPINOCEREBELLAR ATAXIA 5; SCA5. OMIM. August 28, 2013; http://omim.org/entry/600224. Accessed 6/16/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • SCA5
  • Spinocerebellar ataxia type 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.