SMN蛋白表达不足将导致脊髓前角运动神经元变性,继而造成肌肉神经源性肌萎缩,罹患脊髓性肌萎缩(Spinal Muscular Atrophy, SMA),是中国人最常见的常染色体隐性遗传的神经肌肉病。中国人群1174对夫妇中既有1对有生育患儿风险,风险值为1/4。95%的SMA患者是由SMN1基因第7外显子的纯合缺失所致。 临床表现 SMA患者临床主...
Spinal muscular atrophy (SMA) is one of the common neuromuscular disorders in children. In this review,the classification, phenotype, genetics, and management strategy for Chinese SMA patients are discussed, together with i...
Autosomal recessive spinal muscular atrophy (SMA) is a leading cause of infant and child mortality, with homozygous deletion in exon 7 of the SMN1 gene being a major genetic cause. However, routine genetic testing methods may overlook structural variants o...
The management of Spinal Muscular Atrophy (SMA) requires a multidisciplinary treatment approach, wherein rehabilitation constitutes an integral element. In this study, we examined the effects of rehabilitation among Chinese SMA patients and assessed the real-world efficacy of rehabilitation interventions. ...
Objective To establish a solid prenatal genetic diagnosis system for spinal muscular atrophy (SMA) in Chinese Han populations. 目的建立完整的适合汉族人群的脊肌萎缩症(SMA)产前基因诊断体系。 xuebao.shsmu.edu.cn 2. Objective: To establish a genetic diagnosis assay for spinal muscular atrophy ( SMA ...
Spinal Muscular Atrophy(SMA),即脊髓性肌萎缩,是一种罕见且严重的遗传性神经肌肉退行性疾病。以下是对该疾病的详细
muscular atrophy of disuse 废用性肌萎缩 相似单词 muscular a. 强壮的,肌肉发达的,有力的 atrophy n. 萎缩,萎缩症 spinal adj.【术语】 脊的;脊柱的;脊髓的 myo atrophy 【医】 肌萎缩 disuse atrophy 【医】 废用性萎缩 lactation atrophy 【医】 哺乳期子宫萎缩 cerebro spinal adj. 脑脊髓的...
脊髓性肌萎缩症因脊髓前角细胞和脑干运动核退变致使神经根和肌肉萎缩,是发生在婴幼儿的一组较为常见的神经源性肌肉疾病(ICD-10-G)。SMA为常染色体隐性遗传,由5号染色体长臂(5q13.1)上的运动神经原存活基因(survival motorneuron,SMN1)突变所致,90%以上的SMA患者存在SMN1基因外显子7的纯合缺失,在这个区域还存在与...
病情描述(发病时间、主要症状、症状变化等):脊髓性肌萎缩(spinalmuscularatrophy,SMA)外显子7和8缺失纯合子曾经治疗情况和效果:脊髓性肌萎缩(spinal muscular atrophy,SMA) 外显子7和8缺失纯合子想得到怎样的帮助:为了避免此疾病的发生,生二胎时要做哪些检查_有问
脊髓性肌萎缩症(Spinalmuscular atrophy,SMA),是最常见的遗传性肌肉疾病之一,重型可致死。可发病于婴儿期、儿童期或青少年期,其特征是又脊髓和脑干中的下运动神经元变性而引起的骨骼肌进行性萎缩,导致患者肌肉呈现基本对称的、进行性萎缩和物力,最终可导致呼吸衰...