《中国康复理论与实践》

《中国康复理论与实践》 ›› 2013, Vol. 19 ›› Issue (06): 586-588.

• 论文 • 上一篇    下一篇

53 例脊肌萎缩症Ⅱ型患者的临床特

张淑，吴士文，李华   

  1. 中国人民武装警察部队总医院神经内科，北京市100039。
  • 收稿日期:2012-10-23 修回日期:2012-12-02 出版日期:2013-06-25 发布日期:2013-06-25
  • 通讯作者: 吴士文

Clinical Features of Spinal Muscular Atrophy Type Ⅱ: 53 Cases Report

ZHANG Shu, WU Shi-wen, LI Hua.   

  1. Department of Neurology,Chinese People's Army Police Force General Hospital, Beijing 100039, China
  • Received:2012-10-23 Revised:2012-12-02 Published:2013-06-25 Online:2013-06-25

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摘要： 目的探讨脊肌萎缩症(SMA)-Ⅱ型患者的临床特征。方法对门诊基因确诊的53 例SMA-Ⅱ患者的临床和实验室资料给予分析，并进行问卷调查。结果男∶女为1.04∶1 (27∶26)。本次就诊年龄为9 个月~7.8 岁，平均3.35 岁。首次基因确诊平均年龄为17.27 月龄。15%有家族史，其余均为散发。23%母亲孕期异常。87%患者反复感冒，咳痰无力，但均未进行常规肺活量监测，也未给予咳痰器辅助咳痰。83.4%患者有饮水呛咳。53%半流质饮食，均未予胃管辅助。所有患者均表现为四肢呈对称性、弛缓性瘫痪，下肢重于上肢，87.7%患者下肢的肌力仅1~2 级，近端重于远端，腱反射减弱或消失，无病理反射。92%患者存在脊柱轻度~中度后凸、侧弯。83%双下肢髋关节、膝关节、踝关节、跟腱有轻、中、重度挛缩畸形，均未予畸形矫正处理。肌电图表现为广泛神经源性损害。所有患者均未接受学前教育，85%患者未接受正规康复训练。结论SMA-Ⅱ型患者大多表现型极其相似，较为严重，大多没有得到正规的教育、护理和康复。

关键词: 脊肌萎缩症, 临床特征, 康复

Abstract: Objective To investigate the clinical features of spinal muscular atrophy type Ⅱ.Methods The data of clinical manifestation,laboratory data, onset, diagnosis, and rehabilitation of 53 outpatients suffering from spinal muscular atrophy type Ⅱ (SMA-Ⅱ) were analyzed. Results Among 53 patients with SMA-Ⅱ confirmed by molecular genetic tests, 27 patients were male while 26 were female. The mean age was 3.35 years (ranged 0.75~7.8 years), and the age receiving gene diagnosis was 17.27 months. Only 15% had a family history,and abnormalities were found in 23% patients' mothers during pregnancy. 83.4% of them had water choke cough, while 87% expectoration weakness. None of them had cough assist machines and had regular spirometry monitoring. 53% of the patients took semi-liquid diet, however,none of them used stomach tube. Symmetrical flaccid paralysis was so remarkable, even muscle strength of lower limbs in 87.7% of these patients were only grades 1-2. 92% had scoliosis, while 83% had tendon contracture. EMG showed extensive neurogenic changes. All children did not accept normal pre-school education, and 85% patients did not accept formal rehabilitation. Conclusion Most of phenotype of SMA-Ⅱ for the children was similar and more severe in China. Most of the patient didn't get formal education, rehabilitation and care.

Key words: spinal muscular atrophy, clinical feature, rehabilitation