对于1 型 SMA 患儿来说,使用利司扑兰:(1)可以达到全身获益,居家口服的使用方式在疫情防控大环境下对患儿更加方便安全;(2)对于 10 千克以内的儿童治疗费用较低;(3)若使用其他治疗方法出现不良反应/治疗效果不佳,或经济条件较好、想给患儿带来更好治疗效果的家庭,优选使用利司扑兰进行治疗。 调研问题: 内容审核:...
Go to slide 1 Go to slide 2 Go to slide 3 Go to slide 4 Go to slide 5 Go to slide 6 View All Columns Special Collections Spinal Muscular Atrophy and Genetics Specialized Equipment for SMA Patients Living Well With SMA Subscribe to our newsletter Get regular updates to your inbox. ...
SMA and Genetics Spinal muscular atrophy (SMA) is a rare genetic condition characterized by the progressive loss of motor neurons, the specialized nerve cells that control voluntary movement, leading to muscle weakness and wasting. Nearly all (95%) cases of the most common forms of SMA (types ...
在中国人群中,脊肌萎缩症携带者的概率大约是1/40,也就是说每40个人中就有一个是脊肌萎缩症携带者。根据随机的原则,夫妇双方都为脊肌萎缩症携带者的概率是1/1600,每1600对夫妇中就有1对具有生育脊肌萎缩症患儿的风险。进一步,如果某人是脊肌萎缩症携带者,那么他和他的爱人都是脊肌萎缩症携带者的概率就是1/...
European Journal of Human GeneticsTiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A: SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet. 2010, 18: 52-58. Central...
1. 国卫医发〔2018〕10号:关于公布第一批罕见病目录的通知http://www.nhc.gov.cn/yzygj/s7659/201806/393a9a37f39c4b458d6e830f40a4bb99.shtml 2. Farrar MA and Kiernan MC. The genetics of spinal muscular atrophy: progress and ch...
Journal of Medical GeneticsPearn JH. The gene frequency of acute Werdnig- Hoffmann disease (SMA type I): a total population survey in north-east England. J Med Genet 1973;10: 260-265.Pearn JH . 1973 . The gene frequency of acute Werdnig–Hoffmann disease (SMA type I): a total ...
4. Committee on Genetics. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017.doi: 10.1097/AOG.0000000000001952. 5. Glascock J, et al.(2018) Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis.do...
4. Committee on Genetics. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017.doi: 10.1097/AOG.0000000000001952. 5. Glascock J, et al.(2018) Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis.do...
“Baby Michael” Benincasa — who has Type 1 Spinal Muscular Atrophy, a condition that has rendered him quadriplegic and unable to breathe without assistance — now has a wheelchair-accessible vehicle thanks to Steven Kirby of Sciota. After reading about the breakdown of the family’s previous ve...