Medical Definition of Leigh's Disease (Leigh Syndrome)

Reviewed on 9/29/2022

Leigh's disease is a rare, inherited 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 usually begin between the ages of 3 months and 2 years and progress rapidly. Early symptoms and signs may include

As the symptoms progress, weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function, may occur. The prognosis is poor. Leigh's disease is also called Leigh syndrome.

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.