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Disease Information for Encephalomyelopathy/necro/subact/Leigh: Definition
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Leigh"s Necrotizing Encephalopathy; Leigh"s Syndrome; Necrotizing Encephalomyelopathy of Leigh"s; SNE; Subacute Necrotizing Encephalopathy; SUBDIVISIONS: Adult-Onset Subacute Necrotizing Encephalomyelopathy; Classical Leigh"s Disease; Infantile Necrotizing Encephalopathy; X-Linked Infantile Necrotizing Encephalopathy; Leigh"s Disease is a rare inherited neurometabolic disorder; It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve); The symptoms of Leigh"s Disease usually begin between the ages of three months and two years; Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity; As Leigh"s Disease progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which may lead to impairment of respiratory and kidney function; In most cases, Leigh"s Disease is inherited as an autosomal recessive genetic trait; However, autosomal dominant, X-linked recessive, and mitochondrial inheritance have also been noted; There appear to be several different types of genetically determined enzyme defects that can cause Leigh"s Disease;[NORD 2005]-------------------------------------------------------------
Leigh syndrome is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system (brain, spinal cord, and optic nerve), meaning that it gradually loses its ability to function properly.
First described in 1951, Leigh syndrome usually occurs between the ages of three months and two years. The disorder worsens rapidly; the first signs may be loss of head control, poor sucking ability, and loss of previously acquired motor skills, meaning the control of particular groups of muscles. Loss of appetite, vomiting, seizures, irritability, and/or continuous crying may accompany these symptoms. As the disorder becomes worse, other symptoms such as heart problems, lack of muscle tone (hypotonia), and generalized weakness may develop, as well as lactic acidosis, a condition by which the body produces too much lactic acid. In rare cases, Leigh syndrome may begin late in adolescence or early adulthood, and in these cases, the progression of the disease is slower than the classical form.