Leigh syndrome
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Leigh syndrome is a degenerative neurological condition, marked by almost identical brain changes (e.g., focal, bilaterally, symmetric lesions in the basal ganglia, thalamus, and brainstem). There exist variability in the symptoms and genetic causes of Leigh syndrome. The symptoms vary from severe neurologic abnormalities to a near absence of abnormalities. Most often, the central nervous system is affected, resulting in developmental delay and regression, seizures, nystagmus,ophthalmoplegia, optic atrophy,ataxia, hypotonia, spasticity, and breathing abnormalities. Cases in which neurological function is near normal are very rare. In general, the symptoms of Leigh syndrome develop during childhood; however, in some rare cases, symptoms do not begin until adolescence or adulthood.[1] Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA.
References
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Finsterer J. Leigh and Leigh-Like Syndrome in Children and Adults. Pediatr Neurol. 2008.
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- More Detailed Information (Found: 9 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 Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
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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 Leigh syndrome. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Leigh syndrome. Click on the link to view a sample search on this topic.
- Management Guidelines
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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 mitochondrially-inherited (maternally-inherited) Leigh syndrome.
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The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome. Click on the link to view the information.
- Selected Full-Text Journal Articles
- Support Groups (Found: 5 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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The United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Telephone: 412-793-8077
Toll free: 1-888-317-UMDF (8633)
E-mail: info@umdf.org
Web page: http://www.umdf.org
Click here for the Web page on Leigh syndrome.
- Live Chat
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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.
- Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
- Scientific Conferences (Found: 2 Resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
- Upcoming Conferences
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Nutritional Challenges in the High-Risk Infant, September 14, 2009 - September 15, 2009
Location: DC Metro Area
Description: The evidence will be critically evaluated at the workshop. Current gaps in knowledge in this area will be identified and research priorities will be formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
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United Mitochondrial Disease Foundation Annual Symposium , June 24, 2009 - June 27, 2009
Description: The objectives of this symposium are to (1) describe the latest findings regarding mitochondrial diseases; (2) share research findings and award new research grants; (3) explore the clinical manifestations of mitochondrial disorders, including diagnosis and treatment considerations, and understand the concepts of mitochondrial disease therapy; and (4) evaluate the links between mitochondrial disease and a host of more well-known diseases.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.