Chinese expert consensus on diagnosis and treatment of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes / 中华神经科杂志

ABSTRACT

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most commonly recognized mitochondrial disorders with multisystem involvement, associated with genetic defect in mitochondrial genes or nuclear genes. The main clinical manifestations of MELAS include stroke-like episodes, seizures, cognitive and mental impairment, lactic acidosis and exercise intolerance. MELAS has its own specialty in the clinical and pathological features, and treatment strategies. To provide recommendations for optimal management of MELAS, the experts panel achieved the Chinese experts consensus on diagnosis and treatment of MELAS through in-depth and detailed discussion and revision. This consensus summarizes the characteristics of MELAS, covering clinical manifestations, inheritance, diagnosis approaches, medical treatment and nursing, and genetic counseling, based on comprehensive review of literature. The consensus is intended for the clinical and scientific research workers who are engaged in mitochondrial diseases.