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?OrganizationsWhat 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
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.
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Last updated February 13, 2007
