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 type 3 (SMA3), or Kugelberg-Welander disease, is a relatively mild form of spinal muscular atrophy characterized by proximal muscle weakness and hypotonia caused by the degeneration of the lower motor neurons in the spinal cord and the brainstem nuclei. The onset of ...
Spinal Muscular Atrophy is defined as a genetic disorder characterized by the degeneration of lower motor neurons in the spinal cord. It is caused by mutations in the SMN1 gene and can be classified into four types based on age of onset and severity of symptoms. ...
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol 2002; 249(9): 1211-9.Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H (2002) ...
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...
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...
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 最新...
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 (SMA) includes a diverse group of hereditary disorders of the lower motor neuron. The most common form, accounting for 95% of SMA, is a proximal predominant autosomal recessive disease caused by homozygous mutation of the survival motor neuron 1 (SMN1) gene and retention...
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