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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 3


Other Names for this Disease

  • Azorean neurologic disease
  • Machado Joseph disease
  • MJD
  • Nigrospinodentatal degeneration
  • SCA3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or bulging eyes. Symptoms can begin any time between early adolescence and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).[1]
Last updated: 5/5/2009

References

  1. Machado-Joseph Disease Fact Sheet. National Institute of Neurological Disorders and Stroke Website. April 24, 2009; http://www.ninds.nih.gov/disorders/machado_joseph/detail_machado_joseph.htm. Accessed 5/4/2009.
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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 3. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Azorean neurologic disease
  • Machado Joseph disease
  • MJD
  • Nigrospinodentatal degeneration
  • SCA3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.