| 脊髓性肌萎缩症临床诊断研究进展 |
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| 引用本文： | 王柠,何瑾,陈万金.脊髓性肌萎缩症临床诊断研究进展[J].中国现代神经疾病杂志,2012,12(3):252-256. |
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| 作者姓名： | 王柠 何瑾 陈万金 |
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| 作者单位： | 福建医科大学附属第一医院神经内科,福州,350005 |
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| 基金项目： | 国家自然科学基金资助项目，福建省医学创新课题资助项目 |
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| 摘 要： | 脊髓性肌萎缩症系由脊髓前角运动神经元退行性变而导致的进行性、对称性肌无力和肌萎缩的一类常染色体隐性遗传性疾病,其致病基因为运动神经元生存(SMN1)基因。临床上共分为4种类型即脊髓性肌萎缩症Ⅰ、Ⅱ、Ⅲ和Ⅳ型,其临床诊断主要依赖于临床表现、家族遗传史、实验室检查及基因检测。目前尚无有效治疗方法,因此产前诊断和对基因携带者的筛查为有效预防措施。
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| 关 键 词： | 肌萎缩 脊髓性 基因缺失 产前诊断 综述 |
The research progress of clinical diagnosis of spinal muscular atrophy |
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| WANG Ning
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HE Jin
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CHEN Wan-jin.The research progress of clinical diagnosis of spinal muscular atrophy[J].Chinese Journal of Contemporary Neurology and Neurosurgery,2012,12(3):252-256. |
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| Authors: | WANG Ning HE Jin CHEN Wan-jin |
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| Institution: | Department of Neurology,the First Affiliated Hospital,Fujian Medical University,Fuzhou 350005,Fujian,China |
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| Abstract: | Spinal muscular atrophy(SMA) is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord.The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia.The disease is caused by mutation of survival motor neuron(SMN1) gene.Four clinical types are defined for SMA:type Ⅰ,Ⅱ,Ⅲ and Ⅳ.The diagnosis depends on clinical manifestation,inherited history,laboratory test and genetic analysis.To date,there is no effective treatment for SMA,so prenatal diagnosis and carrier screening are important for the prevention of this disease. |
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| Keywords: | Muscular atrophy spinal Gene deletion Prenatal diagnosis Review |
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