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
脊髓性肌萎缩症(Spinalmuscular atrophy,SMA) 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...
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...
Spinal muscular atrophy: new and emerging insights from model mice. Curr. Neurol. Neurosci. Rep. 10, 108-117.Park GH, Kariya S, Monani UR. 2010a. Spinal muscular atrophy: New and emerging insights from model mice. Curr Neurol Neurosci Rep 10: 108-117....
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...
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 ...
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.
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....
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...