肌萎缩侧索硬化症(ALS)是一种成人发病的难治性运动神经元疾病,其特征在于额颞叶皮质神经元和脑干和脊髓运动神经元的选择性变性。这些神经网络的受损会导致进行性肌肉萎缩和虚弱,并扩散到全身,导致危及生命的延髓麻痹和呼吸肌麻痹。然而,尚未建立阻止ALS进展的治疗策略.尽管ALS临床实践的证据仍然不足,近年来,新的研究成果稳步积累。为ALS的诊断和管理提供最新的循证或专家共识建议,ALS临床实践指南制定委员会,由日本神经病学会批准,2023年修订并发布了日本ALS管理临床实践指南。在本准则中,从随机对照试验中积累了证据的疾病修饰疗法被定义为“临床问题,“其中证据水平由系统评价确定。相比之下,“问题和答案”被定义为临床上重要但证据不足的问题,根据少数病例的报告,观察性研究,和专家意见。基于2022年2月进行的文献检索,达成了共识,由独立小组决定,由外部审稿人审查,并在出版前由日本神经病学会成员提交公众意见。在这篇文章中,我们总结了修订后的日本ALS指南,强调护理过程和决策的区域和文化多样性。该指南涵盖了广泛的基本主题,例如病因,诊断标准,疾病监测和治疗,症状的管理,呼吸,康复,营养,新陈代谢,病人的指示,和各种类型的护理支持。我们相信,这一总结将有助于改善ALS患者及其护理人员的日常临床实践。
Amyotrophic lateral sclerosis (ALS) is an adult-onset intractable motor neuron disease characterized by selective degeneration of cortical neurons in the frontotemporal lobe and motor neurons in the brainstem and spinal cord. Impairment of these neural networks causes progressive muscle atrophy and weakness that spreads throughout the body, resulting in life-threatening bulbar palsy and respiratory muscle paralysis. However, no therapeutic strategy has yet been established to halt ALS progression. Although evidence for clinical practice in ALS remains insufficient, novel research findings have steadily accumulated in recent years. To provide updated evidence-based or expert
consensus recommendations for the diagnosis and management of ALS, the ALS Clinical Practice
Guideline Development Committee, approved by the Japanese Society of Neurology, revised and published the Japanese clinical practice
guidelines for the management of ALS in 2023. In this
guideline, disease-modifying therapies that have accumulated evidence from randomized controlled trials were defined as \"Clinical Questions,\" in which the level of evidence was determined by systematic reviews. In contrast, \"Questions and Answers\" were defined as issues of clinically important but insufficient evidence, according to reports of a small number of cases, observational studies, and expert opinions. Based on a literature search performed in February 2022, recommendations were reached by
consensus, determined by an independent panel, reviewed by external reviewers, and submitted for public comments by Japanese Society of Neurology members before publication. In this article, we summarize the revised Japanese guidelines for ALS, highlighting the regional and cultural diversity of care processes and decision-making. The guidelines cover a broad range of essential topics such as etiology, diagnostic criteria, disease monitoring and treatments, management of symptoms, respiration, rehabilitation, nutrition, metabolism, patient instructions, and various types of care support. We believe that this summary will help improve the daily clinical practice for individuals living with ALS and their caregivers.