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Mitochondrial Myopathies Reviewed 04-30-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Mitochondrial myopathies?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Mitochondrial myopathies? Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria - small, energy-producing structures found in every cell in the body that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, reduced ability of the eyes to move, vomiting, and seizures. The disorders range in severity from progressive weakness to death. The age of onset ranges from birth to adulthood, with the majority of cases occurring before the age of 20. Exercise intolerance or muscle weakness usually develops by the age of 20. During physical activity, muscles may become easily fatigued or weak. Muscle cramping may rarely occur. Nausea, headache, and breathlessness are also sometimes associated with mitochondrial myopathies. Is there any treatment? What is the prognosis? What research is being done? Muscular Dystrophy Association
National Organization for Rare Disorders (NORD)
United Mitochondrial Disease Foundation
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