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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 13


Other Names for this Disease

  • Autosomal dominant cerebellar ataxia with mental retardation
  • Cerebellar ataxia, autosomal dominant with mental retardation
  • SCA13
  • Spinocerebellar ataxia type 13
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Overview

Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (often with intellectual disability and occasional seizures) to adult-onset progressive ataxia. Life expectancy is normal. SCA13 is caused by mutations in the KCNC3 gene and is inherited in an autosomal dominant manner. Treatment may include anti-seizure medications; assistive devices (such as a canes and walkers); and/or speech therapy and communication devices.[1]
Last updated: 12/11/2014

References

  1. Stefan-M Pulst. Spinocerebellar Ataxia Type 13. GeneReviews. March 1, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1225/. Accessed 12/11/2014.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Spinocerebellar ataxia 13. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • Autosomal dominant cerebellar ataxia with mental retardation
  • Cerebellar ataxia, autosomal dominant with mental retardation
  • SCA13
  • Spinocerebellar ataxia type 13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.