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Spinocerebellar ataxia 7
Other Names for this Disease
- ADCA type 2
- Autosomal dominant cerebellar ataxia type 2
- Olivopontocerebellar atrophy 3
- OPCA with macular degeneration and external ophthalmoplegia
- OPCA with retinal degeneration
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ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of
Last updated: 7/12/2011
- Spinocerebellar ataxia type 7 (SCA7). National Ataxia Foundation. November 2008; http://www.ataxia.org/pdf/NAF%20Web%20Content%20Publication%20SCA7.pdf. Accessed 7/12/2011.
- Thomas D Bird, Roberta A Pagon, Albert R La Spada. Spinocerebellar Ataxia Type 7. GeneReviews. September 6, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1256/. Accessed 7/11/2011.
- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- The National Ataxia Foundation has a fact sheet about spinocerebellar ataxia 7 containing frequently asked questions about the disease. Click on the link to view this resource as a PDF.
- 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.
- 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.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 7. 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.