NINDS Leigh's Disease Information Page

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Table of Contents (click to jump to sections)
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?

The most common treatment for Leigh's disease is thiamine or Vitamin B1. In patients who have a deficiency of pyruvate dehydrogenase enzyme complex, a high-fat, low-carbohydrate diet may be recommended. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Experimental protocols are currently using dichloroacetate to treat patients with lactic acidosis.

What is the prognosis?

The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.

What research is being done?

The NINDS supports and encourages a broad range of basic and clinical research on neurogenetic disorders such as Leigh's disease. The goal of this research is to understand what causes these disorders and then to apply these findings to new ways to diagnose, treat, and prevent them.

Select this link to view a list of studies currently seeking patients.

Organizations

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

 


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

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Last updated February 13, 2007