Leigh's Disease
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What is Leigh's Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
What is Leigh's Disease?
Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system. Leigh's
disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms
of Leigh's disease usually begin between the ages of 3 months to 2 years and progress rapidly. In most children, the first
signs may be poor sucking ability and loss of head control and motor skills. These symptoms may be accompanied by loss of
appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized
weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
Heart problems may also occur. In rare cases, Leigh's disease can begin during late adolescence or early adulthood and progress
more slowly.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
Epilepsy Foundation 8301 Professional Place Landover, MD 20785-7223 postmaster@efa.org http://www.epilepsyfoundation.org Tel: 301-459-3700 800-EFA-1000 (332-1000) Fax: 301-577-2684 |
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
United Mitochondrial Disease Foundation 8085 Saltsburg Road Suite 201 Pittsburgh, PA 15239 info@umdf.org http://www.umdf.org Tel: 412-793-8077 Fax: 412-793-6477 |
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Last updated February 13, 2007