Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Leigh's Disease


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
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    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: Jrider6022@aol.com
    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: 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 #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    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: braininfo@ninds.nih.gov
    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: info@thearc.org
    Home page: http://www.thearc.org/
  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road
    Pittsburgh PA 15239
    Phone #: 412-793-8077
    800 #: --
    e-mail: info@umdf.org
    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