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LEIGH Syndrome

Summarized by Plex Health
Last Updated: 01 May 2022

Leigh syndrome is a rare genetic neurometabolic disorder. The symptoms of Leigh syndrome usually begin between the ages of three months and two years, however some patients do not display signs and symptoms till numerous years later. A child might experience trouble verbalizing words and collaborating voluntary movements such as walking or running if the beginning of Leigh syndrome is later in youth. Previously gotten intellectual abilities might lessen and intellectual handicap may additionally occur. Progressive neurological damage connected with Leigh syndrome is noted by a range of symptoms including generalised weakness, absence of muscle tone, clumsiness, tremblings, muscle mass spasms that result in slow-moving, tight activities of the legs, and/or the lack of ligament reflexes. Episodes of lactic acidosis might occur and are characterized by extraordinarily high levels of lactic acid in the blood, brain and other tissues of the body. Leigh syndrome may also influence the heart. Severe muscle and movement issues prevail in Leigh syndrome. Loss of feeling and weak point in the arm or legs, common in people with Leigh syndrome, might make movement hard. Several other features may occur in people with Leigh syndrome. Some affected people develop hypertrophic cardiomyopathy, which is an enlarging of the heart muscle mass that compels the heart to work harder to pump blood. The symptoms and signs of Leigh syndrome are triggered partly by patches of harmed tissue that develop in the brains of people with this problem. The brain lesions are typically come with by loss of the myelin finish around nerves, which lowers the ability of the nerves to turn on muscles used for movement or relay sensory information from the remainder of the body back to the brain. The term "Leigh-like syndrome" is usually used for people with features that are highly symptomatic of Leigh syndrome yet who do not meet the diagnostic criteria. Most people with Leigh syndrome have a mutation in nuclear DNA, and about 20% have a mutation in mtDNA. Most genes related to Leigh syndrome are associated with the process of energy production in mitochondria. The fatality of brain cells likely adds to the neurologic features of the condition, while the fatality of cells in other tissues may lead to extra symptoms in other components of the body. When 2 service providers of an autosomal recessive condition have children, each child has a: Autosomal recessive inheritance puts on most of the associated genes in nuclear gene-encoded Leigh syndrome.

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