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Copyright 1987, 1988, 1990, 1992, 1994, 1996, 1998, 1999, 2006, 2007, 2009
NORD is very grateful to Peter W. Stacpoole, PhD, MD, Director, General Clinical Research Center; Director, Clinical and Translational Science Institute; Associate Dean, Clinical Research and Training, University of Florida, for assistance in the preparation of this report.
Synonyms of Leigh's Disease
- Leigh Necrotizing Encephalopathy
- Leigh's Syndrome
- Necrotizing Encephalomyelopathy of Leigh's
- SNE
- Subacute Necrotizing Encephalopathy
Disorder Subdivisions
- Adult-Onset Subacute Necrotizing Encephalomyelopathy
- Classical Leigh's Disease
- Infantile Necrotizing Encephalopathy
- X-Linked Infantile Nectrotizing Encephalopathy
General Discussion
Leigh's disease is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh's disease usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh's disease progresses, symptoms may also include generalized weakness, lack of muscle tone (hypotonia), and episodes of lactic acidosis, which may lead to impairment of respiratory and kidney function.
There appear to be several different types of genetically determined enzyme defects that can cause Leigh's disease. Most individuals with Leigh’s disease have defects of mitochondrial energy production, such as deficiency of an enzyme of the mitochondrial respiratory chain complex or the pyruvate dehydrogenase complex. In most cases, Leigh's disease is inherited as an autosomal recessive trait. However, X-linked recessive and mitochondrial inheritance have also been noted.
Organizations related to Leigh's Disease
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Children's Brain Diseases Foundation
Parnassus Heights Medical Building
350 Parnassus Avenue, Suite 900
San Francisco CA 94117
Phone #: 415-665-3003
800 #: --
e-mail: jrider6022@aol.com
Home page: N/A
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire None CW10 0NQ
Phone #: 016-068-3719
800 #: --
e-mail: N/A
Home page: N/A
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- United Mitochondrial Disease Foundation (UMDF)
8085 Saltsburg Road
Suite 201
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: 888-317-8633
e-mail: info@umdf.org
Home page: http://www.umdf.org
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