小儿进行性脊髓性肌萎缩83例临床分析  

Clinical study of 83 cases with spinal muscular atrophy in children

作　　者：李鸿[1] 王怀礼[1] 单崇敏 

机构地区：[1]天津儿童医院神经内科,300074

出　　处：《中华儿科杂志》2004年第10期762-764,共3页Chinese Journal of Pediatrics

摘　　要：目的　总结小儿进行性脊髓性肌萎缩 (SMA)各类型的临床表现、神经电生理及肌肉病理特点 ,提高对本病的认识水平并探讨基因诊断及产前诊断的临床意义。方法　 83例各型SMA患儿 ,男 5 5例 ,女 2 8例 ,年龄 1d～ 14岁 ,平均 2 3 7个月 ,对本组病例进行临床特点、神经电生理、肌肉病理及基因分析。结果　 83例SMA临床分为 3型 ,其中SMA 1型 6 0例 ,SMA 2型 19例 ,SMA 3型4例 ,3型SMA各有特点 ,但临床均表现为近端肌肉无力 ,肌张力低下。本病为单纯运动神经元受累 ,故患儿电生理表现均为神经源性损害而无感觉神经受累及明显的运动神经传导速度减慢 ;2例行肌活检显示大组萎缩肌纤维 ;13例行运动神经元生存基因 (SMN)检测 ,11例外显子 7和 8联合缺失 ,1例仅第 7外显子缺失 ,1例仅第 8外显子缺失。结论　根据临床特点 ,电生理 ,肌肉病理及基因诊断可与其他松软婴综合征鉴别 ,而能确诊SMA。基因诊断可为产前诊断提供依据 ,达到预防本病发生的目的。Objective Spinal muscular atr ophy (SMA) is a common autosomal recessive disorder and represents one of the m ost common genetic causes of death in childhood. The last 10 years have seen ma jor advances in the field of SMA, but no curative treatment is available so far . This study aimed to analyze the clinical characteristics of SMA, improve the clinical diagnosis of SMA, and explore the importance of gene diagnosis and pren atal diagnosis of SMA by gene deletion analysis. Methods Totally 83 cases with SMA including 55 males and 28 females were enrolled in t his study. The age was between 1 day and 14 years (average 23.7 months). The clinical characteristics and changes of electromyography were assessed in all ca ses. The muscular biopsy was performed in 2 of 83 cases. The deletion of survi val of motor neuron gene (SMN) was detected by PCR and restriction endonuclease spectrum analysis in 13 of 83 cases. Results The 83 case s were subdivided into three clinical groups based on age of onset of symptom, age at death and achievement of certain motor milestone, 60 cases with typeⅠ, 19 cases with typeⅡand 4 cases with type Ⅲ.They were all characterized by sym metric muscle weakness (more proximal than distal) associated with atrophy, abse nce or marked decrease of deep tendon reflexes. Electromyographic studies showe d a pattern of denervation with neither sensory involvement nor marked decrease of motor nerve conduction velocities in all cases. Muscle biopsy provided evide nce of skeletal muscle denervation with groups of atrophy in 2 cases. The SMN d etection revealed deletion of exon 7 and exon 8 in 11 of 13 cases, only lacking exon 7 in 1 of 13 cases and lacking exon 8 in 1 of 13 cases. Conclus ion SMA is characterized by degeneration of lower motor neuron assoc iated with muscle paralysis and atrophy. The definite diagnosis of SMA will rel y on the typical clinical characteristics, changes of electromyogram and muscle biopsy and gene deletion analysis. Gene diagnosis of SMA can provide a ba

关 键 词：肌肉病理 进行性脊髓性肌萎缩 基因诊断 神经电生理 运动神经元 外显子 临床 认识水平 缺失 结论 

分 类 号：R746[医药卫生—神经病学与精神病学] R593.26[医药卫生—临床医学]