青少年成人脊髓性肌萎缩症高危人群快速识别方法的探索与展望  

To Identify High-Risk Adolescent and Adult Spinal Muscular Atrophy Populations:Exploration of Methods and Perspectives

作　　者：赵玉英[1] 朱雯华 戴毅[3] ZHAO Yuying;ZHU Wenhua;DAI Yi(Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,China;Department of Neurology,Huashan Hospital,Fudan University,Huashan Rare Disease Center,National Nerve Disease Medical Center,Shanghai 200040,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]山东大学齐鲁医院神经内科,济南250012 [2]复旦大学附属华山医院神经内科、华山罕见病中心、国家神经疾病医学中心,上海200040 [3]中国医学科学院北京协和医院神经科,北京100730

出　　处：《罕见病研究》2024年第3期288-294,共7页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-D-002)。

摘　　要：脊髓性肌萎缩症(SMA)是一种罕见的遗传性神经肌肉病,患者临床异质性较大。根据病情轻重和进展速度共分为5型。近年来随着多学科综合管理的推广和疾病修正治疗药物的应用,SMA患者的预后已明显改善,更多患者进入青少年及成人期。不同类型患者在青少年和成人期的状态各不相同,也使得这一年龄段患者表现更加复杂多样,识别与诊断更为困难。中国幅员辽阔、人口众多,不同地区医疗水平不均衡,进一步加剧了青少年及成人SMA患者的诊疗难题,误诊或诊断延迟仍是许多患者未解决的首要问题。患者就诊时首诊科室分布广泛,加强非神经肌肉病专科医生对青少年及成人SMA高危人群的识别具有重要意义。本文尝试探讨一种简单清晰、可操作性强的青少年成人SMA高危人群“画像”式识别方法,以期帮助可能首诊SMA患者的非神经肌肉病专科医生做到早期识别、早期诊断,使患者尽早获得规范治疗,从而进一步提高患者的临床获益,改善患者及其家庭的生活质量。Spinal muscular atrophy(SMA)is a rare genetic neuromuscular disease characterized by significant clinical heterogeneity among patients.According to the severity and progression rate of the condition,the disease is classified into five types.In recent years,because of the promotion of multidisciplinary management and the application of disease-modifying therapies,the prognosis of SMA patients has significantly improved,resulting in more patients entering into the stage of adolescence and adulthood.The varying conditions of different types of patients in the adolescence and adulthood make the manifestations more complex and diverse,leading to the difficulty in identification and diagnosis.Because of the vast territory and large population in China,coupled with uneven health care development among different regions of the country,the diagnosis and treatment for adolescent and adult SMA patients are very challenging.Misdiagnosis or delayed diagnosis remains a primary unresolved issue for many patients.The fact that patients have to visit various departments in their initial consultation highlights the importance of enhancing the recognition of high-risk adolescent and adult SMA populations among the non-neuromuscular specialists.This article attempts to explore a simple,clear,and highly operational"portrait"way of identifying the high-risk adolescent and adult SMA patients in the population,aiming at assisting the non-neuromuscular specialists to diagnose SMA patients in a way of early recognition and diagnosis and to ensure patients receiving standardized treatment as early as possible.The ultimate goal is for the higher clinical gain and a better life for patients and their families.

关 键 词：脊髓性肌萎缩症 青少年 成人 高危人群 早期识别 早诊早治 

分 类 号：R746.4[医药卫生—神经病学与精神病学]