National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Leigh Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Leigh necrotizing encephalopathy
- Leigh's disease
- necrotizing encephalomyelopathy of Leigh's
- subacute necrotizing encephalopathy
- classical Leigh syndrome
- adult-onset subacute necrotizing encephalomyelopathy
- infantile necrotizing encephalopathy
- X-linked infantile nectrotizing encephalopathy
Leigh syndrome 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 syndrome 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 syndrome 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.
Several different genetically determined enzyme defects can cause the syndrome, initially described over 60 years ago. Most individuals with Leigh syndrome 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 syndrome is inherited as an autosomal recessive trait. However, X-linked recessive and mitochondrial inheritance are additional modes of transmission.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1825 K Street NW, Suite 1200
Washington, DC 20006
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
Children's Brain Diseases Foundation
350 Parnassus Avenue
San Francisco, CA 94117
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
14 Pembroke Street
Medford, MA 02155
Campbell Burns Metabolic Trust
81 Meadow Lane
Coalville, LE67 4DN
Tel: 44 (0) 1530 450668
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 3/20/2013
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