Spinocerebellar ataxia 3
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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]
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- More Detailed Information (Found: 6 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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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.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spinocerebellar ataxia 3. Click on the link to go to OMIM and review these resources.
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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.
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 8 Resources)
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Scientific Conferences (Found: 1 Resource)
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2009 Triplet Repeat Disorders Gordon Conference, May 31, 2009 - June 5, 2009
Description: The top two priorities of this conference are training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference is on areas of rapid advancement and latest developments. Speakers have been selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders will be instructed to focus on issues that cut across each presentation in a session.
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