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脂质沉积性肌病(lipid strorage myopathy,LSM)是指由于脂肪酸β氧化代谢障碍,致使细胞内脂肪堆积而引起的肌病。脂肪酸氧化过程中任何环节异常均可导致脂肪酸分解和供能障碍,导致脂肪在肌肉或全身组织器官内堆积致病。该病主要的辅助检查包括常规血生化、特殊代谢检查、肌肉活组织检查、肌电图(EMG)、磁共振频谱(MRS)功能影像和基因检测。在欧洲、北美等LSM高发区,已经
Lipid deposition myopathy (lipid stromal myopathy, LSM) is due to fatty acid β oxidative dysfunction, resulting in accumulation of intracellular fat caused by myopathy. Any abnormal fatty acid oxidation process can lead to fatty acid decomposition and disability, resulting in accumulation of fat in muscle or body tissues and organs disease. The main auxiliary examination of the disease include routine blood biochemistry, special metabolic examination, muscle biopsy, electromyography (EMG), magnetic resonance spectroscopy (MRS) functional imaging and genetic testing. In Europe, North America and other LSM high incidence areas, already