连枷臂综合征:肌萎缩侧索硬化的临床变异型

目的 探讨连枷臂综合征的临床特点和诊断标准.方法 回顾分析172例的肌萎缩侧索硬化患者,其中14例临床特征为对称性双上肢近端显著萎缩和无力,而双下肢、球部功能保持相对完好.符合连枷臂综合征的诊断标准.对其临床特点进行统计分析.结果 依据Escorial诊断标准,14例连枷臂综合征患者均符合确诊或拟诊的肌萎缩侧索硬化.男女比例为6：1,显著高于经典肌萎缩侧索硬化组.结论 连枷臂综合征可能为肌萎缩侧索硬化的临床变异型,男性患者的显著高发提示其发病可能与男性基因异常相关.

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis

Objective To study the clinical features and criteria of Flail arm syndrome (FAS).Method 172 cases of amyotrophic lateral sclerosis (ALS) in Peking University Third Hospital were retrospectively reviewed.Among them,there were 14 cases had the clinical findings of symmetric, predominantly proximal wasting and weakness of both arms (especially of the infraspinatus, supraspinatus and deltoideus) leading to severe functional disability and contrasting with preserved independent ambulation and sparing of bulbar muscles.They were all consistent with the proposed criteria of the socalled flail arm syndrome.Clinical characteristics, symptoms and signs were statistical analyzed.Result The 14 cases fulfilled probable or definite ALS E1 Escorial categories having upper and lower motor neuron signs.The ratio of male to female was 6 to 1 which was significantly higher than the ratio of 2.1 to 1 for common ALS group.Conclusion Flail arm syndrome may be a clinical variant of amyotrophic lateral sclerosis.The much higher preponderance in males suggests that genetic factors linked to male sex predispose a proportion of patients to develop the flail arm syndrome.