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该文主要阐述了脊髓性肌萎缩症的主要临床特点和疾病相关SMN基因的研究进展。脊髓性肌萎缩症是一种遗传性主要累及肢体近端的肌麻痹、肌萎缩;部分患者可伴有少数非特异症状和体征。肌电图、神经电图、肌活检等辅助检查对该病的诊断和鉴别诊断有重要作用;基因检测是目前认为有效的确诊该病的辅助手段;诱发电位检查在该病的I型患儿中亦有改变。目前,临床对该病主要是对症治疗和预防并发症的发生。产前诊断是预防该病患儿出生的主要手段。该文同时对疾病相关SMN基因的结构与表型相关性,SMN蛋白的功能和基因治疗研究进展进行阐述。
This article mainly expounds the main clinical features of spinal muscular atrophy and the progress of disease-related SMN genes. Spinal muscular atrophy is a hereditary mainly involving the proximal paralyzed muscle paralysis, muscle atrophy; some patients may be associated with a small number of non-specific symptoms and signs. Electromyography, neuroelectrophoresis, muscle biopsy and other auxiliary examination of the disease diagnosis and differential diagnosis plays an important role; genetic testing is currently considered effective in the diagnosis of the disease, ancillary means; evoked potential test in the disease type I children There have also been changes. At present, the clinical disease is mainly symptomatic treatment and prevention of complications. Prenatal diagnosis is the primary means of preventing the birth of the child. The article also described the relationship between the structure and phenotype of disease related SMN genes, the function of SMN protein and the progress of gene therapy research.