Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary ...
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),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
Spinal Muscular Atrophy (SMA) is an inherited disorder that causes muscle weakness as a result of damage to motor neurons. Read on to learn more about symptoms, treatments and prognoses.
Spinal muscular atrophy type 1 (SMA Type 1) is a rare genetic neuromuscular disease characterized by muscle atrophy and weakness. This case report presents the fatal outcome of a 1‐year‐old girl with delayed diagnosis of SMA Type 1. The child exhibited symptoms of muscle we...
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(SMA)是一种常染色体隐性遗传性的进行性运动神经元病。由于脊髓运动神经元退化,导致骨骼肌萎缩,肢体麻痹,呼吸衰竭和死亡。新生儿的发病率为1/6000~1/10000,是婴儿期最常见的致死性疾病。 二、致病原因 由5号染色体上的SMN1基因变异导致运动神经...
脊髓性肌萎缩(Spinal Muscular Atrophy,SMA)是一种基因突变导致脊髓前角细胞变性引起肌无力和肌萎缩等临床症状的一组疾病。根据疾病严重程度及发病年龄,1992年在欧洲神经肌肉疾病中心召开的SAM国际研讨会将其分为4个类型(Ⅰ、Ⅱ、Ⅲ、Ⅳ)。据统计...
Spinal muscular atrophyis anautosomal recessivemotor neuron diseasethat causes progressiveweakness, and the infantile-onset type I disease is fatal if untreated in infants. • Three recently approved treatments are available to treat SMA, and can lead to profound improvements in the natural history ...
Exercise can enhance the lives of people with spinal muscular atrophy (SMA) by improving or maintaining function and quality of life. This is accomplished through activities that help to maintain or increase muscle strength, cardiovascular endurance, and joint flexibility....