Diagnosis and Clinical Management of Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders.
Diagnosis and Clinical Management of Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders.
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DOI：
10.1212/con.0000000000000535
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发表时间：
2017-10-01
期刊：
影响因子：
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通讯作者：
Goutman, Stephen A
中科院分区：
文献类型：
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作者：
Goutman, Stephen A
审查目的：本文就肌萎缩侧索硬化症的临床特点、诊断途径、治疗方法及病理生理机制的研究进展作一综述。运动神经元疾病的频谱进行了审查，ALS的临床异质性described.Recent发现：ALS越来越多地被认为是一种临床频谱疾病与纯上，纯下运动神经元介绍，支持遗传联系。表型变异性很广。ALS相关基因的鉴定为疾病机制的研究提供了新的思路。概要：ALS是一种进行性致死性多系统神经退行性疾病，主要影响运动神经元。临床识别可疑症状和适当的实验室评估是必不可少的，以限制诊断延误，避免不必要的测试和程序。ALS具有广泛的遗传和假设的环境原因和表型变异性。认识到相关的运动神经元疾病将防止误诊，同时允许适当的疾病咨询。虽然ALS无法治愈，但实施适当的对症治疗是有价值的。
PURPOSE OF REVIEW: This article reviews the clinical features, diagnostic pathway, therapies, and current understanding of the pathophysiology of amyotrophic lateral sclerosis (ALS). The spectrum of motor neuron diseases is reviewed, and the clinical heterogeneity of ALS is described.RECENT FINDINGS: ALS is increasingly recognized as a clinical spectrum disorder with pure upper and pure lower motor neuron presentations, supported by genetic links. The phenotypic variability is broad. Identification of ALS-related genes provides insights into disease mechanisms.SUMMARY: ALS is a progressive fatal multisystem neurodegenerative disease primarily affecting motor neurons. Clinical recognition of suspicious symptoms and the appropriate laboratory evaluation are essential to limit diagnostic delay and avoid unnecessary testing and procedures. ALS has broad genetic and hypothesized environmental causes and phenotypic variability. Recognizing related motor neuron diseases will prevent misdiagnosis while allowing proper disease counseling. Although ALS cannot be cured, implementation of appropriate symptomatic treatment is valuable.