139例肌萎缩侧索硬化患者临床特点

Clinical Characteristics of 139 Amyotrophic Lateral Sclerosis Patients

目的:总结近10年肌萎缩侧索硬化(ALS)住院患者的临床特点。方法:收集ALS住院患者139例,对其临床资料,如年龄、性别、家族史、发病特点及肌电图结果进行综合分析,并对一个可疑家系进行基因测序。结果:住院患者中男性和女性人数比为4∶3,平均发病年龄为50岁,初次就诊时间平均为13.8个月。以脊髓症状起病的较以脑干症状起病的男性患者发病早,而以脑干症状起病的较以脊髓症状起病的女性患者发病早,但起病年龄、部位及性别之间无显著相关性。少数患者出现运动神经传导速度减慢、周围或中枢感觉传导通路障碍及视神经受累。电话随访提示小部分患者可以持续口服利鲁唑,疾病晚期时仅小部分患者考虑或已行胃造瘘术,且患者临床决定可能受多种因素影响。其中发现的一个遗传性ALS患者家系的致病位点为铜锌超氧化物歧化酶基因上一杂和突变。结论:ALS早期的非特异性症状延误了患者的入院就诊时间,从而影响了治疗效果,需要更多的临床研究来寻找提高其生活质量的干预措施。超氧化物歧化酶基因突变是其发病原因之一,而患者的其他病史与ALS之间的关系需要进一步探索。

Objective： To analyze the clinical characteristics of 139 amyotrophic lateral sclerosis（ALS） patients.Methods： Clinical data of 139 ALS patients was collected, including age, sex, family history, onset and EMG.Members of one family with suspicious hereditary ALS were screened for superoxide dismutase 1 gene mutation.Results： The ratio of male to female patients was 4 ∶3, average age of onset was 50 years old, time of initial discomfort to the first clinical visit was 13.8 months. In male patients, those who displayed initial symptoms associated with spinal cord had an earlier age of onset compared with those who had symptoms associated with brain stem; on the contrary, female patients having symptoms associated with brain stem had an earlier age of onset.There was no significant association between sex, age and location of onset. In a minority of patients, somatic peripheral, central sensory and optic nerve transduction were also affected. Only a small number of patients could take riluzole as a standard component of treatment, and gastrostomy was also not widely accepted at the late phase of disease. A variety of factors could determine the decision making of patients through the development of disease.The disease-causing mutation of superoxide dismutase 1 gene was determined. Conclusion： ALS always had an insidious onset, which delays the hospital visit for the patients and also the therapy effect. More clinical researches are needed to provide meaning interventions to improve the living standard of the patients. Mutation of superoxide dismutase 1 is one cause for amyotrophic lateral sclerosis, and its association with other diseases on patients needs to be discovered.