肌萎缩侧索硬化的临床诊治进展

Research advances in clinical diagnosis and treatment of amyotrophic lateral sclerosis

摘要:

肌萎缩侧索硬化（amyotrophic lateral sclerosis，ALS）是一种致死性神经系统变性疾病，主要累及锥体束、脑干和脊髓前角运动神经元，临床表现为进行性加重的肌肉萎缩、无力及延髓麻痹，最终因呼吸衰竭死亡。随着研究的深入，ALS除运动症状外，其非运动症状也越来越受到重视。尽管目前该病的诊断主要基于病史、临床表现和电生理，辅助检查仅作为协助排除临床表现相似的其他疾病，遗传学和生物标记物的研究进展为ALS的早期诊断、病理生理机制的揭示、疾病进展及预后的评估提供了客观的参考。虽然目前ALS的治疗药物并不能有效阻止疾病的进展，然而以基因修饰及干细胞移植为代表的新的治疗方法在未来的治疗中显示了巨大的应用前景。

Abstract:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which mainly involves the pyramidal tract, the brain stem, and spinal cord anterior horn motor neuron. Major clinical manifestations include progressive aggravation of muscle atrophy, weakness, and bulbar palsy, and patients may eventually die of respiratory failure. In addition to the motor symptoms of ALS, its non-motor symptoms have attracted more and more attention. At present, the diagnosis of ALS is mainly based on medical history, clinical manifestation, and electrophysiological results, and auxiliary examinations only help to exclude other diseases with similar clinical manifestations. The research advances in genetics and biomarkers provide an objective reference for early diagnosis of ALS, exploration of pathophysiological mechanism, and evaluation of disease progression and prognosis. Although existing drugs for ALS cannot effectively stop the progression of ALS, new treatments including gene modification and stem cell transplantation hold promise for clinical application in the treatment of ALS.