Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, mainly involving the pyramidal tract, brain stem and spinal cord anterior horn cells, manifests as progressive muscle atrophy, weakness and cramps, as well as cognitive impairment, and may overlap with frontotemporal dementia. ALS is familial in 5% of cases, whose clinical manifestations are similar to sporadic. The diagnosis is made mainly based on clinical manifestations, using internationally recognized consensus standard, after rule out conditions that can mimic ALS. Genetic testing provides a new way to accelerate the diagnostic process for early intervention. Part of the gene mutations are associated with specific phenotypes. According to this, prognosis assessment and genetic counseling are able to carry out.

Key words: Amyotrophic lateral sclerosis, Diagnosis, Review

摘要： 肌萎缩侧索硬化症为致命性神经系统变性疾病，主要累及锥体束、脑干和脊髓前角细胞，临床表现呈进行性加重的肌肉萎缩、无力及痉挛，以及认知损害等，与额颞叶痴呆的临床表现存在部分重叠。约有5%的患者为家族遗传性，临床表现与散发型相似。诊断主要基于患者临床表现、世界神经病学联盟公布的共识，同时排除临床表现相似的疾病。基因检测为加速诊断进程、早期干预提供了新的途径，部分基因突变与特异性表型相关，可据此进行预后评价和遗传学咨询。

关键词: 肌萎缩侧索硬化, 诊断, 综述