小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 上肢无力
- 僵硬，伴随协调和平衡差
- 痉挛状态，步态不稳
- 痛性肌肉痉挛
- 从椅子站起及爬楼梯困难
- 足下垂
- 僵硬和平衡能力下降，并影响步态
- 头下垂
- 进行性维持直立姿态困难，身体弯曲
- 肌萎缩
- 腰椎前凸加重和腹部膨隆倾向
- 反射亢进
- 呼吸困难
- 液体（包括分泌物）导致呛咳，最终发展至食物导致呛咳
- 声音发紧，语速缓慢
- 言语不清，带鼻音，有时发声困难
其他诊断因素
- 跌倒倾向
- 多涎和流涎
- 不适当地暴发哭泣或发笑
- 认知障碍
- 额颞叶痴呆的特征
危险因素
- 遗传倾向或家族史
- 年龄＞40 岁
- 兵役
- 职业性体育活动
- 吸烟
- 农用化学品暴露
- 铅暴露
诊断性检查
首要检查
- 临床诊断
需考虑的检查
- 肌电图（EMG）
- 反复神经刺激
- 脑部和脊柱 MRI
- 抗 GM1 抗体
- 电压门控性钙通道抗体
- 乙酰胆碱受体抗体
- 维生素 B₁₂
- 肌酸激酶
- 腰椎穿刺术：
- HIV 检查
- 基因检测
治疗流程
所有患者
撰稿人
作者
Christopher J. McDermott, MBChB, FRCP, PhD
Professor of Translational Neurology and Honorary Consultant Neurologist
University of Sheffield
Faculty of Medicine, Dentistry and Health
Department of Neuroscience
Sheffield Institute for Translational Neuroscience
Sheffield
UK
利益声明
CJM has received fees for membership of data monitoring committees from Orion Pharma and Orphazyme.
鸣谢
Professor Christopher J. McDermott would like to gratefully acknowledge Dr Laura Simionescu and Dr Jeremy Shefner, previous contributors to this topic.
利益声明
LS and JS declare that they have no competing interests.
同行评议者
William S. David, MD, PhD
Associate Professor of Neurology
Harvard Medical School
Boston
MA
利益声明
WSD declares that he has no competing interests.
Leo McCluskey, MD MBE
Associate Professor of Neurology
University of Pennsylvania
Philadelphia
PA
利益声明
LM declares that he has no competing interests.
Martin R. Turner, MA, MBBS, PhD, MRCP
MRC/MNDA Lady Edith Wolfson Clinician Scientist & Honorary Consultant Neurologist
Oxford University Department of Clinical Neurology
John Radcliffe Hospital
Oxford
UK
利益声明
MRT is a co-author of "Motor Neuron Disease – A Practical Manual" (Oxford University Press, 2010), which is a summary of his own understanding and practice, and which strongly influenced the recommendations for revision of the current article. He receives a proportion of royalties derived from sales of this book.
鉴别诊断
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- 包涵体肌炎
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