Spinocerebellar ataxia 13
Other Names for this Disease
- Autosomal dominant cerebellar ataxia with mental retardation
- Cerebellar ataxia, autosomal dominant with mental retardation
- Spinocerebellar ataxia type 13
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.
- Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar ataxia and is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.
- 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.