青少年成人脊髓性肌萎缩症临床诊疗指南

中国研究型医院学会罕见病分会; 中国罕见病联盟; 北京罕见病诊疗与保障学会; 青少年成人脊髓性肌萎缩症临床诊疗指南中国专家组

doi:10.12376/j.issn.2097-0501.2023.02.010

文章导航 > 罕见病研究 > 2023 > 2(2): 231-255

中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, 青少年成人脊髓性肌萎缩症临床诊疗指南中国专家组. 青少年成人脊髓性肌萎缩症临床诊疗指南[J]. 罕见病研究, 2023, 2(2): 231-255. doi: 10.12376/j.issn.2097-0501.2023.02.010

引用本文:

Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(2): 231-255. doi: 10.12376/j.issn.2097-0501.2023.02.010

Citation:

Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(2): 231-255. doi: 10.12376/j.issn.2097-0501.2023.02.010

引用本文:

Citation:

Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(2): 231-255. doi: 10.12376/j.issn.2097-0501.2023.02.010

青少年成人脊髓性肌萎缩症临床诊疗指南

doi: 10.12376/j.issn.2097-0501.2023.02.010

1.
中国医学科学院北京协和医院神经科, 北京 100730
2.
中国医学科学院北京协和医院疑难重症与罕见病国家重点实验室, 北京 100730

基金项目:

中央高水平医院临床科研业务费 2022-PUMCH-D-002

中国医学科学院罕见病研究中心支持项目

通信作者：戴毅^1，2，E-mail：pumchdy@pumch.cn
崔丽英^1，2，E-mail：pumchcuily@sina.com

详细信息

中图分类号: R746.4
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- 文章访问数: 128
- HTML全文浏览量: 22
- PDF下载量: 39
- 被引次数: 0
出版历程
- 收稿日期: 2023-03-10
- 录用日期: 2023-03-24

Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy

1.
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
2.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funding:

National High Level Hospital Clinical Research Funding 2022-PUMCH-D-002

Supported by Center for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, China

Corresponding authors: DAI Yi^{1, 2}, E-mail: pumchdy@pumch.cn
CUI Liying^{1, 2}, E-mail: pumchcuily@sina.com

摘要

摘要: 近年来，脊髓性肌萎缩症(SMA)在多学科综合管理、疾病修正治疗药物等方面取得长足进步，明显提升了患者生存期及生活质量。然而，对于年龄较大的青少年与成人患者尚缺乏系统性临床诊疗指南规范和指导临床工作。基于循证医学原则，来自全国多家SMA诊疗中心的多学科专家经过充分讨论，达成一致意见，为SMA临床规范化诊疗提供重要依据。
- 脊髓性肌萎缩症 /
- 诊断 /
- 多学科管理 /
- 疾病修正治疗
Abstract: In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients. However, no clinical practice guideline has developed for the management of SMA in adults and adolescents patients. Experts of multidisciplinary from a number of tertiary medical centers in China who specialize in the diagnosis and treatment of SMA have come to an agreement based on the evidence-based medicine. This guideline serves as instrumental reference for the standardized care of the Chinese SMA patients.
- spinal muscular atrophy /
- diagnosis /
- multidisciplinary treatment /
- disease modifying therapy
注释:

作者贡献：通信作者(戴毅、崔丽英)负责整个指南的筹划、专家团队组建，并负责整体推进指南的制定。12个专科部分的主要执笔人在各部分后标出。所有专家都参与了相应部分指南的讨论、提出大量修改意见，对指南进行了完善。最终实现所有专家均认可的终稿，予以投稿发表。

利益冲突：参与指南制定的全部专家均声明无利益冲突。

HTML全文

图 1 操作前影像学检查

A. 脊髓性肌萎缩症(SMA)患者脊柱3D-CT成像，红色箭头所指间隙可见棘突间隙及较宽大的椎板间隙，黄色箭头所指节段间隙棘突间隙因骨质融合已消失，相应椎板间隙狭窄；B. 1例SMA患者C1-C2椎间隙MRI T₂加权像横断面成像，可见橘色虚线不规则圆形区域内的脊髓偏向椎管右侧；C. 1例SMA患者L2-L3椎板间隙旁矢状倾斜位纵轴扫查超声成像，蛛网膜下腔可见中高回声脊髓影像

Figure 1. Preparation of imaging studies before intrathecal injection

下载: 全尺寸图片幻灯片

图 2 超声引导下腰椎穿刺图像

A.经腰椎椎板间隙纵轴失状倾斜位入路超声实时引导平面内穿刺给药技术探头位置及对应超声图像; B.经腰椎椎板间隙横轴位入路超声实时引导平面内穿刺给药技术超声探头位置及对应超声图像；黄色长方形色块代表探头位置，红色箭头代表进针方向，黄色带箭头虚线代表进针路径

Figure 2. Images of real-time ultrasound guiding lumbar puncture

下载: 全尺寸图片幻灯片

图 3 超声辅助/引导鞘内注射治疗临床决策流程

Figure 3. Clinical decision-making process of ultrasound assisted/guided intrathecal injection

下载: 全尺寸图片幻灯片

表 1 不同病情SMA患者运动功能评估建议

Table 1. Recommendations for motor function assessment of SMA patients with different functional status

患者分型	日常活动	功能状态	生活质量
不可独坐者	RULM CHOP-ATEND ROM	SMAFRS	SF-36
可独坐(不可站立)者	RULM HFMSE MFM-32 ROM	SMAFRS	SF-36
可独坐(可辅助站立)者	RULM HFMSE MFM-32	SMAFRS	SF-36
可行走者	HFMSE MFM-32	SMAFRS TUGT 6MWT	SF-36
RULM：修订的SMA上肢模块；CHOP-ATEND：费城儿童医院成人神经肌肉疾病测试；ROM：关节活动范围；SMAFRS：脊髓性肌萎缩症功能评估量表；SF-36：健康状况调查表；HFMSE：汉默史密斯功能运动量表扩展版；MFM-32：运动功能评估-32项；TUGT：“起立-行走”计时测试；6MWT：6分钟步行测试

下载: 导出CSV

表 2 应用无创正压通气治疗的时机

Table 2. Timing of the application of non-invasive positive pressure ventilation

适用前提	具体治疗时机
出现任一情况需要考虑开始夜间NIPPV治疗	白天高碳酸血症(PaCO₂＞45 mm Hg) 睡眠呼吸障碍(包括出现睡眠低通气、OSA和CSA) 矛盾呼吸端坐呼吸肺部反复感染并需要住院治疗(＞3次/年)
对已经应用夜间NIPPV治疗，出现此情况需要同时行白天NIPPV治疗	需要NIPPV的时间延长至清醒状态呼吸困难引起的吞咽异常，经NIPPV缓解呼吸困难严重，无法说整句话低通气症状，白天最低SpO₂＜95%或/和清醒时PaCO₂＞45 mm Hg
NIPPV：无创正压通气治疗；PaCO₂：动脉血二氧化碳分压；OSA：阻塞性睡眠呼吸暂停；CSA: 中枢性睡眠呼吸暂停；SpO₂：血氧饱和度

下载: 导出CSV

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