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肌萎缩侧索硬化症和其他运动神经元病的临床特征

Authors
Lauren B Elman, MD
Leo McCluskey, MD, MBE
Section Editor
Jeremy M Shefner, MD, PhD
Deputy Editor
John F Dashe, MD, PhD

引言

肌萎缩侧索硬化症(amyotrophic lateral sclerosis, ALS)最初于19世纪由Charcot描述，是一种导致肌无力、残疾和最终死亡的持续进展性神经变性疾病，目前不能治愈。著名的纽约洋基棒球队球员Lou Gehrig罹患该病后，ALS也被称为Lou Gehrig病[1-3]。

ALS在世界范围内的发病率相同，年发病率为1-3例/100,000人。ALS易感性似乎无民族或种族差异。在65岁或70岁之前，男性的ALS发病率高于女性，但此后男女发病率相等。ALS发病的年龄分布高峰为60-80岁，但ALS也可发生在二十几岁的人群。散发性ALS最常见，遗传性或家族性ALS仅占所有ALS的10%。 (参见“家族性肌萎缩侧索硬化症”)

本专题将总结ALS的临床特征。ALS的流行病学、诊断和鉴别诊断将单独讨论。 (参见“肌萎缩侧索硬化症的流行病学和发病机制”和“肌萎缩侧索硬化症和其他类型运动神经元病的诊断”)

临床病理特征

ALS的临床特点为上运动神经元(upper motor neuron, UMN)和下运动神经元(lower motor neuron, LMN)同时受损的症状和体征。

●ALS的UMN表现包括无力伴迟缓、反射亢进及痉挛，是由位于运动区(Brodman 4区)的额叶运动神经元及其穿过放射冠、内囊、大脑脚、脑桥基底部、髓质椎体及脊髓中皮质脊髓侧束的轴突变性所致。尸检时，发现脊髓背外侧区(此区域包含皮质脊髓侧束)胶质增生，触诊发现其变硬或硬化。

                   

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Literature review current through: 2017-06 . | This topic last updated: 2017-01-18.
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