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目的总结各型脊髓性肌萎缩症(SMA)患儿典型的与非典型的临床特征,为在更广范围内指导SMA分子发病机制的进一步研究。方法对存在SMN1基因纯合缺失的66例中国SMA患儿的临床数据进行分析。结果典型的临床特征存在于每种类型SMA中,此外还伴有一些非典型的临床特征:5例患儿有周围神经病变表现(Ⅰ型3例,Ⅲ型2例),4例有卵圆孔未闭(Ⅰ型3例,Ⅲ型1例),4例有骨骼畸形(Ⅰ、Ⅱ型各1例,Ⅲ型2例),2例有中枢神经系统疾病(Ⅰ型1例,Ⅲ型1例),1例Ⅲ型患儿有舌肌肥大。结论典型临床特征可作为SMA的初步诊断标准,作为伴发病的非典型临床特征反应了SMA的表型多样性,周围神经病变可能是少数SMA临床谱的一部分。每一型SMA可能和不同的伴发病相关联。本研究结果将有助于未来精确SMA分子致病机制研究。
Objective To summarize the typical and atypical clinical features of children with various types of spinal muscular atrophy (SMA) and to further investigate the pathogenesis of SMA in a broader scope. Methods The clinical data of 66 Chinese SMA patients with homozygous deletion of SMN1 gene were analyzed. Results Typical clinical features were present in each type of SMA, along with some atypical clinical features: peripheral neuropathy was present in 5 children (3 in type I and 2 in type III) and in 4 in oval There were 3 cases of type Ⅰ and type Ⅲ, 1 case of type Ⅲ, 4 cases of skeletal deformity (1 case of type Ⅰ and Ⅱ, 2 cases of type Ⅲ) and 2 cases of central nervous system diseases (1 case of type Ⅰ and Ⅲ cases of type Ⅲ 1 case), 1 case of type Ⅲ children with tongue hypertrophy. Conclusion The typical clinical features can be used as the primary diagnostic criteria for SMA. The atypical clinical features associated with the disease reflect the phenotypic diversity of SMA. Peripheral neuropathy may be part of the clinical spectrum of a small number of SMAs. Each type of SMA may be associated with a different complication. The results of this study will help to study the molecular mechanism of SMA molecular in the future.