儿童脊肌萎缩症23例临床特点及遗传学分析  

Clinical features and inheritance analysis of 23 cases of spinal muscular atrophy

作　　者：刘长云[1] 王永芹[1] 季加芬[1] 崔华勤[1] 齐爱华[1] 吕爱敏[1] 

机构地区：[1]潍坊医学院附属医院儿科,山东潍坊261031

出　　处：《临床儿科杂志》2007年第2期88-90,共3页Journal of Clinical Pediatrics

摘　　要：目的探讨脊肌萎缩症的临床特点和遗传方式。方法对23例脊肌萎缩症患儿的临床资料进行总结,并用Weiber先证法分析其发病的遗传规律。结果临床特点为出生后双下肢呈对称性弛缓性瘫痪且进行性加重,四肢近端无力,肌张力、肌力低下;肌电图主要表现为神经原性损害。隐性遗传分离分析表明,12个家系23例患儿发病方式符合常染色体隐性遗传。结论脊肌萎缩症的临床发病早且病死率高,在遗传咨询中注意作相关产前基因检查,可避免该类患儿的出生。Objectives To investigate the clinical features and the onset pattern of spinal muscular atrophy. Methods The clinical data of 23 children suffering from spinal muscular atrophy were analyzed using Weiber proband method to find the inheritance pattern of pathogenesis. Results All 23 children were characterized by postnatal progressive symmetrical flaccid paralysis in both lower extremities, weakness of proximal limbs, hypotonia and lower muscle strength. Electromyography demonstrated motoneuron degeneration. By segregation analysis of recessive inheritance, 23 cases of 12 pedigree suffering from spinal muscular atrophy fit autosomal recessive inheritance, Conclusions Spinal muscular atrophy is an early-onset disorder with high mortality. Prenatal gene diagnosis was essential in genetic counseling.

关 键 词：脊肌萎缩症 肌张力 遗传 肌电图 

分 类 号：R746[医药卫生—神经病学与精神病学]