Oliveira Acary Souza Bulle, Pereira Roberto Dias Batista
Departamento de Neurologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2009 Sep;67(3A):750-82. doi: 10.1590/s0004-282x2009000400040.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting the motor nervous system. It causes progressive and cumulative physical disabilities in patients, and leads to eventual death due to respiratory muscle failure. The disease is diverse in its presentation, course, and progression. We do not yet fully understand the cause or causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. Currently, we rely on a multidisciplinary approach to symptomatically manage and care for patients who have ALS. Although amyotrophic lateral sclerosis and its variants are readily recognized by neurologists, about 10% of patients are misdiagnosed, and delays in diagnosis are common. Prompt diagnosis, sensitive communication of the diagnosis, the involvement of the patient and their family, and a positive care plan are prerequisites for good clinical management. A multidisciplinary, palliative approach can prolong survival and maintain quality of life. Treatment with Riluzole improves survival but has a marginal effect on the rate of functional deterioration, whereas non-invasive ventilation prolongs survival and improves or maintains quality of life. In this review, we discuss the diagnosis, management, and how to cope with impaired function and end of life on the basis of our experience, the opinions of experts, existing guidelines, and clinical trials. Multiple problems require a multidisciplinary approach including aggressive symptomatic management, rehabilitation to maintain motor function, nutritional support (enteric feeding, gastrostomy), respiratory support (non invasive home ventilation, invasive ventilation, tracheotomy), augmentative communication devices, palliative care, psychological support for both patients and families (because family members so often play a central role in management and care), communication between the care team, the patient and his or her family, and recognition of the clinical and social effects of cognitive impairment. Social, bioethical, and financial issues as well as advance directives should be addressed. A plethora of evidence-based guidelines should be compiled into an internationally agreed guideline of best practice. The multidisciplinary team has changed the history of disease, with still no curative therapy available.
肌萎缩侧索硬化症（ALS）是一种影响运动神经系统的神经退行性疾病。它会导致患者出现进行性和累积性身体残疾，并最终因呼吸肌衰竭而死亡。该疾病在表现、病程和进展方面具有多样性。我们尚未完全了解该疾病的病因或多种病因，也不清楚其进展机制；因此，我们缺乏治疗这种疾病的有效方法。目前，我们依靠多学科方法对患有ALS的患者进行症状管理和护理。尽管神经科医生很容易识别肌萎缩侧索硬化症及其变体，但仍有大约10%的患者被误诊，诊断延迟很常见。及时诊断、敏感地传达诊断结果、患者及其家属的参与以及积极的护理计划是良好临床管理的先决条件。多学科姑息治疗方法可以延长生存期并维持生活质量。利鲁唑治疗可提高生存率，但对功能恶化率的影响微乎其微，而非侵入性通气可延长生存期并改善或维持生活质量。在本综述中，我们根据我们的经验、专家意见、现有指南和临床试验，讨论了诊断、管理以及如何应对功能障碍和生命终结问题。多个问题需要多学科方法，包括积极的症状管理、维持运动功能的康复治疗、营养支持（肠内喂养、胃造口术）、呼吸支持（家庭无创通气、有创通气、气管切开术）、辅助沟通设备、姑息治疗、对患者及其家属的心理支持（因为家庭成员在管理和护理中往往发挥核心作用）、护理团队与患者及其家属之间的沟通，以及认识到认知障碍的临床和社会影响。应解决社会、生物伦理和财务问题以及预先指示。应将大量基于证据的指南汇编成国际公认的最佳实践指南。多学科团队改变了疾病的历史，而目前仍然没有治愈性疗法。
