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Genetic and Rare Diseases Information Center (GARD)

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Leigh syndrome


Other Names for this Disease
  • Leigh's disease
  • Leigh's necrotizing encephalopathy
  • LS
  • Necrotizing encephalopathy infantile subacute of Leigh
  • SNE
More Names
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Overview


Leigh syndrome is a rare inherited degenerative neurological condition that affects the central nervous system. It usually begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Signs and symptoms usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. There are several different gene mutations that can cause this condition. Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA.[1]
Last updated: 10/5/2011

References

  1. Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. October 2008; http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm. Accessed 10/5/2011.
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Basic Information

In Depth Information

  • The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

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