Brain & Nervous System More Neurological Diseases Leigh's Disease Symptoms and Treatment By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Mary Kugler, RN Medically reviewed by Medically reviewed by Claudia Chaves, MD on September 16, 2019 Claudia Chaves, MD, is board-certified in cerebrovascular disease and neurology with a subspecialty certification in vascular neurology. Learn about our Medical Review Board Claudia Chaves, MD Updated on February 05, 2020 Print simarik / Getty Images More in Brain & Nervous System More Neurological Diseases Autism Headaches Multiple Sclerosis Parkinson's Disease Stroke Alzheimer's Down Syndrome Epilepsy Migraines Head Trauma Neurological Symptoms & Diagnosis Treatment View All Leigh's disease is an inherited metabolic disorder that damages the central nervous system (brain, spinal cord, and optic nerves). Leigh's disease is caused by problems in the mitochondria, the energy centers in the body's cells. A genetic disorder that causes Leigh's disease can be inherited in three different ways. It may be inherited on the X (female) chromosome as a genetic deficiency of an enzyme called pyruvate dehydrogenase complex (PDH-Elx). It may be inherited as an autosomal recessive condition that affects the assembly of an enzyme called cytochrome-c-oxidase (COX). It may also be inherited as a mutation in the DNA in the cell mitochondria. Symptoms The symptoms of Leigh's disease usually begin between the ages of 3 months and 2 years. Since the disease affects the central nervous system, symptoms may include: Poor sucking abilityDifficulty holding up the headLosing motor skills the infant had such as grasping a rattle and shaking itLoss of appetiteVomitingIrritabilityContinuous cryingSeizures As Leigh's disease becomes worse over time, the symptoms may include: Generalized weaknessLack of muscle tone (hypotonia)Episodes of lactic acidosis (accumulation of lactic acid in the body and brain) that may impair breathing and kidney functionHeart problems Diagnosis Diagnosis of Leigh's disease is based on the symptoms the infant or child has. Tests may show a deficiency of pyruvate dehydrogenase or the presence of lactic acidosis. Individuals with Leigh's disease may have symmetrical patches of damage in the brain that may be discovered by a brain scan. In some individuals, genetic testing may be able to identify the presence of a genetic mutation. Treatment Treatment of Leigh's disease usually includes vitamins such as thiamine (vitamin B1). Other treatments may focus on the symptoms present, such as anti-seizure drugs or heart or kidney medicines. Physical, occupational, and speech therapy can help a child reach his or her developmental potential. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. "NINDS Leigh's Disease Information Page." Disorders. 13 Feb 2007. National Organization for Neurological Disorders and Stroke. "Leigh's Disease." Index of Rare Diseases. 17 Dec 2007. National Organization for Rare Disorders. Macnair, Trisha. "Leigh's Disease." BBC Health. July 2006.