Francis K, Bach J R, DeLisa J A
Department of Physical Medicine and Rehabilitation, UMDNJ-New Jersey Medical School, Newark, USA.
Arch Phys Med Rehabil. 1999 Aug;80(8):951-63. doi: 10.1016/s0003-9993(99)90089-8.
Adult motor neuron disease (amyotrophic lateral sclerosis [ALS]) is a neurodegenerative disorder characterized by loss of motor neurons in the cortex, brain stem, and spinal cord, manifested by upper and lower motor neuron signs and symptoms affecting bulbar, limb, and respiratory musculature. Clinically, the disease course is characterized by progressive weakness, atrophy, spasticity, dysarthria, dysphagia, and respiratory compromise, ultimately resulting in death or mechanical ventilation in the vast majority of patients. Patterns of presentation and pathological features of the disease, along with clinical and electrophysiologic criteria for diagnosis, are discussed in this review. Since 8% to 22% of patients survive more than 10 years without ventilator use, meticulous medical and rehabilitation management is extremely important to ensure optimal health and quality of life in these patients. Major issues in the care of individuals with ALS include weakness and spasticity, impairments in activities of daily living and mobility, communication deficits and dysphagia in those with bulbar involvement, respiratory compromise, fatigue and sleep disorders, pain, and psychosocial distress. Research in ALS changes rapidly, but is currently focused on potential etiologic factors such as glutamate excitotoxicity, role of oxidative stress, autoimmunity to calcium channels, and cytoskeletal abnormalities, as well as related treatment initiatives including glutamate modulators, neurotrophic factors, antioxidants, antiapoptotic factors, and gene therapy. Recently, mutations in the gene encoding Cu/Zn superoxide dismutase were identified in a subset of familial ALS patients. Riluzole, a glutamate antagonist and Na-channel blocker, became the only drug currently approved for treatment of ALS after studies showed a small positive effect on survival. Until a definitive treatment or cure for ALS is found, the multifaceted rehabilitation team approach remains the best hope for improving health and survival in this devastating illness.
成人运动神经元病（肌萎缩侧索硬化症[ALS]）是一种神经退行性疾病，其特征是皮质、脑干和脊髓中的运动神经元丧失，表现为影响延髓、肢体和呼吸肌肉组织的上、下运动神经元体征和症状。临床上，该病病程的特征为进行性肌无力、萎缩、痉挛、构音障碍、吞咽困难和呼吸功能不全，最终导致绝大多数患者死亡或需要机械通气。本文综述了该疾病的临床表现模式、病理特征以及临床和电生理诊断标准。由于8%至22%的患者在不使用呼吸机的情况下存活超过10年，因此精心的医疗和康复管理对于确保这些患者的最佳健康状况和生活质量极为重要。ALS患者护理中的主要问题包括肌无力和痉挛、日常生活活动和行动能力受损、延髓受累患者的沟通障碍和吞咽困难、呼吸功能不全、疲劳和睡眠障碍、疼痛以及心理社会困扰。ALS的研究变化迅速，但目前集中在潜在的病因因素上，如谷氨酸兴奋性毒性、氧化应激的作用、对钙通道的自身免疫以及细胞骨架异常，以及相关的治疗措施，包括谷氨酸调节剂、神经营养因子、抗氧化剂、抗凋亡因子和基因治疗。最近，在一部分家族性ALS患者中发现了编码铜/锌超氧化物歧化酶的基因突变。利鲁唑是一种谷氨酸拮抗剂和钠通道阻滞剂，在研究显示其对生存率有微小的积极影响后，成为目前唯一被批准用于治疗ALS的药物。在找到针对ALS的确切治疗方法或治愈方法之前，多方面的康复团队方法仍然是改善这种毁灭性疾病患者健康状况和生存率的最大希望。
