肌萎缩侧索硬化症概述
Amyotrophic Lateral Sclerosis Overview
作者信息
Siddique Nailah, Siddique Teepu
机构信息
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois
Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences;, Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois
The purpose of this overview is to: 1.. Describe the clinical characteristics of amyotrophic lateral sclerosis (ALS); 2.. Review genetic causes of ALS; 3.. Provide an evaluation strategy to identify the genetic cause of ALS in a proband (when possible); 4.. Provide a high-level view of management of ALS; 5.. Inform genetic counseling of family members of an individual with ALS.
本综述的目的是
- 描述肌萎缩侧索硬化症（ALS）的临床特征；2. 回顾ALS的遗传病因；3. 提供一种评估策略，以确定先证者中ALS的遗传病因（如果可能）；4. 提供ALS管理的总体概述；5. 为ALS患者的家庭成员提供遗传咨询。
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