Spinocerebellar ataxia 13
Other Names for this Disease
- Spinocerebellar ataxia type 13
- Cerebellar ataxia, autosomal dominant with mental retardation
- Autosomal dominant cerebellar ataxia with mental retardation
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.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
Last updated: 12/11/2014
- Stefan-M Pulst. Spinocerebellar Ataxia Type 13. GeneReviews. March 1, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1225/. Accessed 12/11/2014.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.