MELAS: a mitochondrial encephalomyopathy syndrome.
MELAS, a syndrome characterized by Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes, is one of a group of diseases known as mitochondrial encephalopathies. These genetically-transmitted diseases result in metabolic abnormalities associated with mitochondrial dysfunction, which contribute to neuronal destruction. Clinical manifestations include dementia, seizures, muscle weakness and stroke-like episodes. Accurate diagnosis is difficult to make and effective treatment is nonexistent at this time. The focus of care is supportive and the nurse's role centers on identification of deficits and maintenance of existing function.
Hilton
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Beth Israel Medical Center, North Division, New York City, USA.
D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics / Q000451:nursing*; D008297:Male; D009460:Neurologic Examination; D009730:Nursing Assessment; D010375:Pedigree; D017354:Point Mutation
D004272:DNA, Mitochondrial