Department of Neurology, School of Medicine, Room 5.41, 5th Floor, Biomedical Science Building, Trinity College Dublin, Dublin 2, Ireland.
Nat Rev Neurol. 2011 Oct 11;7(11):639-49. doi: 10.1038/nrneurol.2011.153.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in progressive loss of bulbar and limb function. Patients typically die from respiratory failure within 3 years of symptom onset. The incidence of ALS in Europe is 2-3 cases per 100,000 individuals in the general population, and the overall lifetime risk of developing the disease is 1:400. ALS is familial in 5% of cases, and shows a Mendelian pattern of inheritance. ALS is recognized to overlap with frontotemporal dementia. Diagnosis is made on clinical grounds, using internationally recognized consensus criteria, after exclusion of conditions that can mimic ALS. The Revised ALS Functional Rating Scale is currently the most widely used assessment tool; scores are used to predict survival, and have been employed extensively in clinical trials. Riluzole remains the only effective drug, and extends the average survival of patients by 3-6 months. Optimal treatment is based on symptom management and preservation of quality of life, provided in a multidisciplinary setting. The discovery of further effective disease-modifying therapies remains a critical need for patients with this devastating condition.
肌萎缩侧索硬化症（ALS）是一种神经退行性疾病，导致延髓和肢体功能进行性丧失。患者通常在症状出现后 3 年内死于呼吸衰竭。欧洲的 ALS 发病率为每 10 万人中有 2-3 例，总体终生发病风险为 1:400。5%的病例为家族性，呈孟德尔遗传模式。ALS 被认为与额颞叶痴呆重叠。在排除可模拟 ALS 的疾病后，根据国际公认的共识标准，基于临床诊断。修订后的 ALS 功能评定量表目前是最广泛使用的评估工具；评分用于预测生存，在临床试验中广泛应用。利鲁唑仍然是唯一有效的药物，可将患者的平均生存时间延长 3-6 个月。最佳治疗方法基于症状管理和生活质量的维持，在多学科环境中提供。对于这种毁灭性疾病的患者，发现进一步有效的疾病修饰疗法仍然是一个关键需求。
