Disease Information for MELAS Encephalopathy: Definition

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  • MELAS syndrome: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episode; Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke; MELAS syndrome is one of a group of rare muscular disorders that are called mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria) resulting in disease of the brain and muscles (encephalomyopathies). This mitochondrial defect and a condition known as "ragged red fibers" (an abnormality of muscle tissue when viewed under a microscope) are typically present. The most characteristic symptom of MELAS syndrome is recurring, stroke-like episodes in which sudden headaches are followed by vomiting and seizures. Short stature, an accumulation of lactic acid in the blood (lactic acidosis), and muscular weakness on one side of the body (hemiparesis) are typically present. Visual symptoms may include impaired vision or blindness in one half of the visual field (hemianopsia) and/or blindness due to lesions in the area of the brain concerned with vision (cortical blindness). Although the exact cause of MELAS syndrome is not fully understood, it has been found to run in families (familial);

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