Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Leigh syndrome


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

Leigh syndrome is a rare, inherited neurodegenerative condition. It usually begins in infancy, often after a viral infection. Rarely, it begins in the teenage or adult years. Signs and symptoms usually progress rapidly and may get worse after a viral infection. Early signs may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures.[1] As the disorder progresses, symptoms may include weakness and lack of muscle tone; spasticity; movement disorders; cerebellar ataxia; and peripheral neuropathy. Complications can lead impairment of respiratory, heart and kidney function. Leigh syndrome may be caused by changes (mutations) in either mitochondrial DNA or nuclear DNA:[2][3][4]
Some people with features very similar to those of Leigh syndrome are said to have "Leigh-like syndrome."[3] Treatment is generally supportive and focuses on the symptoms present.[3][4]
Last updated: 2/29/2016

References

  1. Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. December, 2011; http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm.
  2. Thornburn DR, Rahman SR. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. April 17, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1173/.
  3. Leigh syndrome. Genetics Home Reference. October, 2011; http://ghr.nlm.nih.gov/condition/leigh-syndrome.
  4. Rahman S & Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Overview. GeneReviews. October 1, 2015; http://www.ncbi.nlm.nih.gov/books/NBK320989/.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The Neuromuscular Disease Center at Washington University provides information about Leigh syndrome.
  • 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. 
  • 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

Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.