中国实用神经疾病杂志2026，Vol.29Issue(10)：1194-1200,7.DOI:10.12083/SYSJ.260004
以肌无力为首发症状的脂质沉积性肌病:临床病理特征复发预测及ETFDH新突变
Lipid storage myopathy presenting with isolated muscle weakness as the initial symptom:Clinicopathological features,predictors of relapse,and a novel ETFDH mutation
摘要
Abstract
Objective To elucidate the clinicopathological features of patients with lipid storage myopathy(LSM)presenting with isolated muscle weakness as the initial symptom,assess the dynamic value of serum creatine kinase(CK),identify independent predictors of disease recurrence,and expand its genetic profile.Methods A retrospective analysis was conducted on 38 LSM patients confirmed by muscle biopsy and presenting with isolated muscle weakness.Clinical phenotypes,CK levels,electromyography(EMG),and pathological data were collected.Targeted next-generation sequencing was performed for ETFA,ETFB,and ETFDH genes.Cox proportional hazards modeling was used to identified predictors of post-treatment relapse.Results The mean age of onset was 31.6 years,with a misdiagnosis rate of 34.21%(commonly as polymyositis).Muscle biopsy revealed lipid droplet accumulation in all cases,while 15.79%exhibited necrotic muscle fibers,significantly associated with myopathic EMG changes.Pre-treatment CK levels correlated negatively with iliopsoas muscle strength(ρ=-0.72,P<0.001).The relapse rate during follow-up was 46.9%.Multivariate analysis identified pre-treatment CK>5 000 IU/L(HR=2.3,95%CI:1.1-4.8,P=0.03)and necrotic fibers(HR=3.1,95%CI:1.4-6.9,P=0.006)as independent predictors of relapse.Genetic analysis detected ETFDH mutations in 90%of tested patients,including a novel missense mutation(c.1562C>T,p.Ser521Phe)in the ubiquinone-binding domain.Conclusion LSM patients with predominant muscle weakness exhibit unique clinicopathological features and high misdiagnosis rates.Extremely elevated CK and histological necrosis signify severe lipotoxic injury and predict relapse risk.The proposed predictors and novel mutation provide critical insights for precise diagnosis and long-term management.关键词
脂质沉积性肌病/多酰基辅酶A脱氢酶缺乏症/ETFDH基因/肌酸激酶/肌纤维坏死/复发Key words
Lipid storage myopathy/Multiple acyl-CoA dehydrogenase deficiency/ETFDH gene/Creatine kinase/Muscle fiber necrosis/Relapse分类
医药卫生引用本文复制引用
张文,丁卫江,李学明..以肌无力为首发症状的脂质沉积性肌病:临床病理特征复发预测及ETFDH新突变[J].中国实用神经疾病杂志,2026,29(10):1194-1200,7.基金项目
江西省卫健委科技计划项目(编号:202610452) （编号:202610452）
江西中医药管理局科技计划项目(编号:2025020026) （编号:2025020026）
