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 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-
Spinal muscular atrophy type 2 (SMA2), or Werdnig-Hoffmann disease type 2, is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brainstem ...
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(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
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
Type IV: The adult type of SMA commonly presents symptoms after a person turns 35 years old, and the condition gradually worsens over time. Because type IV SMA develops slowly, many people do not realize they have it until years after symptoms appear. How is spinal muscular atrophy diagnosed...
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...
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 ...