Neurological disorders system lesion in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome)
The paper deals with damage to the central nervous system and skeletal muscles in MELAS syndrome. It gives data on the specific features of inheritance of the syndrome. The genes whose mutations lead to the development of the disease are indicated. The pathophysiological mechanisms and sequels of stroke-like episodes are described. The authors present the results of an original study of the pathological changes in skeletal muscles in children with MELAS syndrome and their mothers. They describe the pathophysiological paradox of MELAS, which provides an explanation for the occurrence of cerebrovascular disorders and the severity of the course of the disease. There is a rationale for L-arginine treatment in central nervous system lesion. Data on drug therapy for MELAS syndrome are given.