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Genetic and Rare Diseases Information Center (GARD)

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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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Overview

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 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).[1] Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones.[2] SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner.[2] Treatment is generally symptomatic and supportive.
Last updated: 7/12/2011

References

  1. 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.
  2. Garden G. Spinocerebellar Ataxia Type 7. GeneReviews. December 20, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1256/. Accessed 9/17/2014.
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Basic Information

In Depth Information

  • The 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. 
  • 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.

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.