Nusinersen (Spinraza).This treatment adjusts the SMN2 gene and lets it make more protein. It's used for both children andadultswith SMA. Your child's medical team will inject the drug into the fluid around their spinal cord. Including preparation and recovery time, this can take at least ...
Wirth, B. Spinal muscular atrophy: in the challenge lies a solution. Trends Neurosci. 44, 306–322 (2021). This comprehensive review discusses the evolution over the past 25 years in the understanding of the pathobiology of SMA, genotype–phenotype relationships and treatment strategies. CAS Pub...
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.
There are several treatment options available for spinal muscular atrophy (SMA), a rare genetic condition characterized by progressive muscle weakness and wasting. The disease mainly affects motor function, but many patients also may experience breathing, swallowing, and speech difficulties, along with ...
Yang D, Ruan Y, Chen Y. Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: a systematic review and meta-analysis. J Paediatr Child Health. 2023;59(3):431–8.https://doi.org/10.1111/jpc.16340. (Epub 20230201. PubMed PMID: ...
An object of the present invention is to provide a novel therapeutic means effective for spinal muscular atrophy, particularly type II and type III spinal muscular atrophy. A therapeutic agent for spinal muscular atrophy is provided, which contains a Notch signal inhibitor or a pharmacologically ...
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
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...
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
Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells. Since 2017, SMA patients can be treated with the anti-sense oligonucleotide Nusinersen, which promotes...