临床神经病学杂志2011，Vol.24Issue(6)：452-454,3.
儿童型脊肌萎缩症的临床特点
Clinical features of childhood-onset spinal muscular atrophy
摘要
Abstract
Objective To approach the clinical features of childhood-onset spinal muscular atrophy ( CSMA). Method The clinical data of 11 CSMA patients were analyzed retrospectively. Result In this group, the average age of onset was (6. 1 ±5.5) years old. The onset in all of them were chronic. The mainly clinical manifestations were limbs weakness, thinner and walking instability. The level of serum enzyme in 5 cases was rising slightly. The result of electromyography examination in 8 cases was neurogenic damage and the other 3 cases was normal. Muscle pathologic examination showed that the size of muscle fibers was inequality in all the cases, the different degree of myofibers grouping in 10 cases, nuclear ingression myofibers in 8 cases, with little keratosic fibers in 7 cases and target fibers in 6 cases. Conclusions The clinical features of CSMA are limb weakness and atrophy appeared in the childhood. The features of muscle electrophysiology and pathology are neurogenic damage.关键词
脊肌萎缩症/临床特征Key words
spinal muscular atrophy/ clinical features分类
医药卫生引用本文复制引用
喻绪恩,杨任民,王训,孙丹丹,石永光,付晓明,周志华,程楠,胡纪源,韩咏竹..儿童型脊肌萎缩症的临床特点[J].临床神经病学杂志,2011,24(6):452-454,3.基金项目
安徽省人才开发基金(2007Z040) （2007Z040）
安徽中医学院科研基金项目(2009LC3-005) （2009LC3-005）
