What is Leigh's Disease?

Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults.

What causes Leigh's disease?

Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.

What are the symptoms of Leigh's disease?

Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability, and the 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.

In Leigh's disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate (ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.

Leigh's Disease Definition

Leigh's disease: A rare genetic disorder characterized by progressive damage to the central nervous system. Leigh's disease is caused by a defect in the function of mitochondria within the cells of the body. Symptoms begin in infancy and include poor sucking ability, the loss of head control and motor skills, 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.

There are different forms of Leigh's disease, but all forms have a poor prognosis. Most cases are fatal during childhood, although some individuals have survived to adolescence.

Also known as Leigh's syndrome.

SOURCE: MedTerms.com.

Is there any treatment for Leigh's disease?

The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leigh's disease, a high-fat, low-carbohydrate diet may be recommended.

Are there other forms of Leigh's disease?

There is also a form of Leigh's disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.

What is the prognosis for Leigh's disease?

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 with Leigh's disease?

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.

Clinical trials for Leigh's disease

NIH Patient Recruitment for Leigh's Disease Clinical Trials

Support for Leigh's disease

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 888-317-UMDF (8633)
Fax: 412-793-6477

Medically reviewed by Jon Glass, MD; American board of Psychiatry and Neurology

Last update: 10/8/2008

SOURCE: National Institute of Neurological Disorders and Stroke. NINDS Leigh's Disease Information Page.

Last Editorial Review: 4/2/2014

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Reviewed on 4/2/2014
References
Medically reviewed by Jon Glass, MD; American board of Psychiatry and Neurology

Last update: 10/8/2008

SOURCE: National Institute of Neurological Disorders and Stroke. NINDS Leigh's Disease Information Page.

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