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 DiscussionLeigh'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- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
- Children's Brain Diseases Foundation
350 Parnassus Avenue
San Francisco CA 94117
Phone #: 415-665-3003
800 #: --
e-mail: [email protected]
Home page: N/A
- Lactic Acidosis Support Trust
1A Whitley Close
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: [email protected]
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: [email protected]
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
- National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/
- The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/
- United Mitochondrial Disease Foundation
8085 Saltsburg Road
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: --
e-mail: [email protected]
Home page: http://www.umdf.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html