Spinocerebellar ataxia 3
Other Names for this Disease
- Machado Joseph disease
- Nigrospinodentatal degeneration
- Azorean neurologic disease
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ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood 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).Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by
Last updated: 10/23/2014
- Machado-Joseph Disease Fact Sheet. National Institute of Neurological Disorders and Stroke Website. April 16, 2014; http://www.ninds.nih.gov/disorders/machado_joseph/detail_machado_joseph.htm. Accessed 10/23/2014.
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- 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.
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