脊髓性肌萎缩症的最新诊疗进展
Advances in the Diagnosis and Management of Spinal Muscular Atrophy
王宁宁 1焦可馨 1朱雯华1
作者信息
- 1. 复旦大学附属华山医院神经内科,上海 200040;复旦大学附属华山医院神经内科国家神经疾病医学中心,上海 200040;复旦大学附属华山医院罕见病中心,上海 200040
- 折叠
摘要
脊髓性肌萎缩症(SMA)是由于SMN蛋白缺乏进而导致脊髓前角细胞损害为主、全身多系统受累的常染色体隐性遗传病.文中的SMA特指5q型SMA.由于该病致残率高,病情迁延,严重影响患者的生活质量,给家庭核医疗带来沉重负担,因此早诊断早治疗十分重要.近年来,疾病修正治疗药物在国内外陆续获批上市,改变了SMA的自然病程,已有多项临床研究证实其疗效及安全性.文中汇总了最新的SMA诊疗证据,以期增加临床医生对SMA疾病的认识,并为未来相关研究的开展带来启发.
Abstract
Spinal muscular atrophy(5q-SMA)is an autosomal recessive genetic disorder characterized by the defficiency of SMN protein,resulting in a wide range of systemic involvements besides the motor neuron impairment.Early diagnosis and treatment are important due to the delayed nature of the disease and the resulting medical burden.In recent years,disease-modifying therapies for SMA have been approved and marketed worldwide,altering the disease trajectory and gaining attention for their efficacy and safety in multiple clinical studies.The latest diagnostic and therapeutic evidence for SMA were reviewed to increase awareness among the clinicians and inspire the future research in the field.
关键词
脊髓性肌萎缩症/诊断/疾病修正治疗/疗效/安全性Key words
spinal muscular atrophy/diagnosis/disease-modifying therapies/efficacy/safety引用本文复制引用
出版年
2024
NETL
NSTL
万方数据