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肌萎缩侧索硬化

最后审阅: 12 Nov 2024
最后更新: 08 Feb 2023

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
  • 发音过弱
完整详情

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
完整详情

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
完整详情

诊断性检查

首要检查

  • 临床诊断
完整详情

需考虑的检查

  • 肌电图(EMG) 和神经传导检测
  • 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(acetylcholine receptor, AChR)和肌肉特异性受体酪氨酸激酶(muscle-specific tyrosine kinase, MuSK)抗体
  • 维生素 B₁₂
  • 肌酸激酶
  • 腰椎穿刺术:
  • HIV 检查
  • 基因检测
完整详情

治疗流程

持续性治疗

所有患者

撰稿人

作者

Christen Shoesmith, MD, FRCPC

Associate Professor of Neurology

Clinical Neurological Sciences

London Health Sciences Centre

London

Ontario

Canada

利益声明

CS has received honoraria from Mitsubishi Tanabe Pharma Canada for participating in scientific medical advisory boards and for presenting at ALS CME events. She has also received stipends for consultancy work for Biogen. She is the chair of the CALS (Canadian ALS Research Network) and in that capacity sits on the scientific medical advisory board for ALS Canada. She is the site PI for several multi-centre clinical trials, including trials sponsored by Mitsubishi Tanabe, AL-S Pharma, Sanofi, Calico, and Cytokintetics. CS is an author of references cited in this topic.

鸣谢

Dr Christen Shoesmith would like to gratefully acknowledge Professor Christopher J. McDermott, Dr Laura Simionescu, and Dr Jeremy Shefner, previous contributors to this topic.

利益声明

CJM received fees for membership of data monitoring committees from Orion Pharma and Orphazyme. 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.

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