Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LS...Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that mus展开更多
多种酰基辅酶A脱氢酶缺陷(Multiple acyl CoA dehydrogenase deficiency,MADD)是一种罕见的脂肪酸、氨基酸和胆碱代谢异常的常染色体隐性遗传病,由电子转移黄素蛋白或电子转移黄素蛋白脱氢酶的基因缺陷引起。迟发型MADD患者大多具有ETFD...多种酰基辅酶A脱氢酶缺陷(Multiple acyl CoA dehydrogenase deficiency,MADD)是一种罕见的脂肪酸、氨基酸和胆碱代谢异常的常染色体隐性遗传病,由电子转移黄素蛋白或电子转移黄素蛋白脱氢酶的基因缺陷引起。迟发型MADD患者大多具有ETFDH突变,可出现近端肌肉无力和远端感觉神经病变,对核黄素治疗反应较好。主要机制可能是ETFDH突变导致线粒体中的电子传递链异常,从而无法在线粒体膜中产生能量。核黄素可以减少ETF/ETF-QO蛋白的异常表达,改善患者的发病状况,是理想的治疗方案。但目前对核黄素无反应的MADD患者的发病机制和治疗方案尚不清楚。展开更多
基金grants from the National Natural Science Foundation of China，the National Key Clinical Specialty Discipline Construction Program,and Fujian Key Clinical Specialty Discipline Construction Program
文摘Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that mus
文摘多种酰基辅酶A脱氢酶缺陷(Multiple acyl CoA dehydrogenase deficiency,MADD)是一种罕见的脂肪酸、氨基酸和胆碱代谢异常的常染色体隐性遗传病,由电子转移黄素蛋白或电子转移黄素蛋白脱氢酶的基因缺陷引起。迟发型MADD患者大多具有ETFDH突变,可出现近端肌肉无力和远端感觉神经病变,对核黄素治疗反应较好。主要机制可能是ETFDH突变导致线粒体中的电子传递链异常,从而无法在线粒体膜中产生能量。核黄素可以减少ETF/ETF-QO蛋白的异常表达,改善患者的发病状况,是理想的治疗方案。但目前对核黄素无反应的MADD患者的发病机制和治疗方案尚不清楚。
