原发性侧索硬化症1例

1 临床资料 患者，男，38岁，农民，因进行性双下肢体乏力10年，渐加重伴行走困难4年余入我院治疗。患者10年前无明显诱因出现双下肢体乏力，以右侧明显，时常绊脚、摔倒，行走时需抬高脚，未及时治疗，病情进行性发展，出现双下肢酸麻、无力，活动受限，逐渐无法跑步及负重，上楼梯困难，下蹲后起立稍困难，近4年来病情发展较快，出现行走困难，需他人搀扶，但生活可自理，为进一步治疗而就诊我院。入院查体：颅神经查体正常。步态蹒跚，轻度鸭步态，下蹲后起立困难，四肢肌肉无萎缩，双上肢肌张力正常，双下肢肌张力高，

运动神经元疾病的症状

运动神经元疾病的症状阎洪臣运动神经元疾病是由于植物毒素中毒或微量元素缺乏；慢病毒感染；其他如遗传、某些细胞内酶系缺乏等不明原因选择性地累及中枢神经系统运动神经元及传导束的慢性变性疾病。其主要临床表现为受累部位肌肉萎缩、无力、锥体束征。依其病理改变的主...

肌萎缩患者的自我调治

肌萎缩是多种疾病共有的临床症状,包括肌萎缩侧索硬化症、进行性脊肌萎缩症、进行性延髓麻痹、原发性侧索硬化症等。患者由于肌肉萎缩,肌无力而长期卧床,易发生肺炎、褥疮等,加之大多数出现延髓麻痹,给患者生命构成极大的威胁。患者除用药治疗外,自我调治也非常重要。

散发上运动神经元综合征成年患者的spastin基因突变

Mutation of the spastin gene is the single most common cause of pure hereditary spastic paraparesis. In patients with an unexplained sporadic upper motor neuron (UMN) syndrome, clinical distinction between primary lateral sclerosis and sporadic hereditary spastic paraparesis may be problematic. To investigate whether spastin mutations are present in patients with primary lateral sclerosis and sporadic hereditary spastic paraparesis, we screened the spastin gene in 99 Dutch patients with an unexplained, apparently sporadic, adult-onset UMN syndrome. We found 6 mutations, of which 4 were novel, in the subgroup of 47 patients with UMN symptoms restricted to the legs (13% ). Another novel spastin mutation was found in a patient with a rapidly progressive spinal and bulbar UMN syndrome that progressed to amyotrophic lateral sclerosis. In the patients with arm or bulbar UMN symptoms and slow progression, no spastin mutations were found. Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis.