Epilepsy & Seizures
May. 22, 2023
At vero eos et accusamus et iusto odio dignissimos ducimus qui blanditiis praesentium voluptatum deleniti atque corrupti quos dolores et quas.
Leigh syndrome is a rare inherited neurometabolic disorder that affects the central nervous system. This disorder begins in infants between the ages of 3 months and 2 years. Rarely, it can occur in teenagers and adults.
Symptoms of Leigh syndrome usually progress rapidly, and may include:
As the disorder progresses, symptoms may also include:
Leigh syndrome can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase.
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. These genetic mutations result in a chronic lack of energy in the cells which affects the central nervous system and causes progressive degeneration of motor functions.
There is also a form of Leigh syndrome (X-linked recessive inheritance) that is the result of mutations in a gene that produces another group of substances important for cell metabolism. This gene is only found on the X chromosome.
The most common treatment for Leigh syndrome is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may be prescribed to manage lactic acidosis. Researchers are testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals with the X-linked form of Leigh syndrome, a high-fat, low-carbohydrate diet may be recommended.
How can I or my loved one help improve care for people with Leigh syndrome?
Consider participating in a clinical trial so clinicians and scientists can learn more about Leigh syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Leigh syndrome at Clinicaltrials.gov.
The University of Texas Health Science Center at Houston Mitochondrial Center of Excellence manages a database of individuals living with Leigh syndrome known as "TRiaLS: The International Registry for Leigh Syndrome." The registry enables qualified researchers and clinicians to connect with people with Leigh syndrome for International Review Board (IRB)-approved research projects and clinical trials. Visit the People Against Leigh Syndrome (PALS) website to learn more and enroll.
Where can I find more information about Leigh syndrome?
Information is available from the following organizations:
Phone: 301-459-3700 or 800-332-1000; 866-748-8008 Spanish
National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish
United Mitochondrial Disease Foundation
Phone: 412-793-8077 or 888-317-8633
Content source: https://www.ninds.nih.gov/health-information/disorders/leigh-syndrome Accessed June 23, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.