少年型脊肌萎缩症的基因型及临床特征分析  

Genotypic and clinical features of spinal muscular atrophy type 3

作　　者：王艳云[1,2] 冯善伟 操基清[1] 杨娟[1] 李亚勤[2] 利婧[1] 张成[1] 

机构地区：[1]中山大学附属第一医院,广州510080 [2]中山医学院 [3]广州市人口与计划生育研究所

出　　处：《中华医学遗传学杂志》2012年第2期218-221,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（U1032004,30870851）;“十一五”国家支撑计划（2006BAI05A07）;广东省计生委资助项目（2008011,2009208,2010002）

摘　　要：目的探讨少年型脊肌萎缩症（juvenilespinalmuscularatrophy，SMAⅢ）的临床特征、基因型及相关实验室检查。方法收集并分析18例确诊的SMAⅢ患者的临床资料、基因型及实验室检查结果。结果患者平均起病年龄6．1岁，从出现首发症状到就诊病程为13个月到28年不等。患者均以双下肢肌无力症状起病，逐渐出现双下肢近端肌萎缩和双上肢近端无力；所有患者SMN（survivalmotorneuron）基因分析提示均存在SMN1基因纯合缺失。行肌电图检查15例，结果均提示神经源性损害。年龄较小患者肌酸激酶（creatinekinase，CK）值基本正常，多数年龄较大的患者CK值均不同程度升高，但增高程度与年龄无关。结论充分认识SMAⅢ的临床特点，尤其是生长发育方面的特点，结合基因分析、早期诊断并早期干预对延缓患者的病情进展具有重要意义。Objective To explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 （SMA Ⅲ）. Methods Results of genetic testing and laboratory exams of 18 SMA Ⅲ patients were collected and analyzed. Results The average age of onset of patients was 6.1 years, with the course of disease lasting from 13 months to 28 years. All patients became symptomatic with lower extremity muscle weakness. The symptoms gradually aggregated, with proximal lower limb muscle becoming atrophic and proximal upper limb muscle becoming weak. Genetic testing indicated that all subjects possessed homozygous deletions of SMN1 gene. Electromyography （EMG） of 15 subjects indicated neurogenic damage. Whilst younger patients had normal level of creatine kinase （CK）, elder patients had higher level of CK, though no linear correlation was found. Conclusion Full understanding of Clinical, especially the growth features of SMA Ⅲ, in combination with genetic testing, can facilitate diagnosis and early intervention of the disease.

关 键 词：脊肌萎缩症 SMN基因 肌电图 肌酸激酶 

分 类 号：R746[医药卫生—神经病学与精神病学]