方法分析13例婴儿型脊髓性肌萎缩症患儿的临床资料。
Methods The clinical data of 13 infants suffering from infantile spinal muscular atrophy were analysed.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
目的探讨婴儿型脊髓性肌萎缩症的临床、电生理特点及基因诊断的临床意义。
Objective To investigate the clinical and electrophysiology features of infantile spinal muscular atrophy, and explore the clinical significance of genetic diagnosis.
结论鼠神经生长因子治疗儿童脊髓性肌萎缩症有一定疗效且无严重不良反应。
Conclusion Mouse nerve growth factor has certain therapeutic effects on SMA in children with no severe side effects.
一个涉及脊髓性肌萎缩病的基因显示出与三个人群有关联但却没有在伊巴丹、尼日利亚、的优鲁巴人身上发现。
A gene implicated in spinal muscular atrophy showed an association in three populations, but not in yoruba from ibadan, Nigeria.
Thomson等人已经从ALS（肌萎缩侧索硬化症，译者），唐氏综合症，脊髓性肌萎缩等疾病的患者中构建出iPS细胞。
Thomson and others have already created iPS cells from people with ALS, Down syndrome, and spinal muscular atrophy, among other disorders.
可是他在21岁的时候，出现了肌萎缩性（脊髓）侧索硬化的征兆；这一疾病不可避免地要导致瘫痪，使他很多事都不能做。
But at age 21 he developed the first symptoms of amyotrophic lateral sclerosis (ALS), a disorder that would inevitably render him paralyzed and incapable of performing most kinds of work.
霍金患有肌萎缩性脊髓侧索硬化症，简称ALS，他只能坐在轮椅上，说话必须依赖电脑语音发生器。
Hawking has ALS, or amyotrophic lateral sclerosis, which has confined him to a wheelchair and leaves him unable to speak without the help of a computerized voice synthesizer.
必须做更进一步关于肌萎缩性脊髓侧索硬化症缓和照顾的研究。
Further research on this important aspect of palliative care in ALS is needed.
肌萎缩性脊髓侧索硬化症(ALS)是运动神经元疾病的最常见的形式，能导致瘫痪。
Amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease, causes paralysis.
肌萎缩性脊髓侧索硬化症是种神经肌肉疾病，它影响到大脑将指令(包括呼吸指令)传送到肌肉的能力。
Amyotrophic lateral sclerosis is a neuromuscular disease that affects the brain's ability to send messages to muscles, including those used for respiration.
Greger说，能够最终从“大脑想法—电脑发声语言”无线转换设备受益的人包括：中风瘫痪病人、肌萎缩性脊髓侧索硬化症病人与外伤病人。
People who eventually could benefit from a wireless device that converts thoughts into computer-spoken spoken words include those paralyzed by stroke, Lou Gehrig's disease and trauma, Greger says.
经常会有人问我：你患了肌萎缩性脊髓侧索硬化症，对此你怎么看？
I am quite often asked: How do you feel about having ALS (amyotrophic lateral sclerosis)?
21岁时，英国物理学家史蒂芬·霍金被发现患上肌萎缩性脊髓侧索硬化症(简称als)，也称卢伽雷氏病。
At the age of 21, the British physicist Stephen Hawking was found to have 2 amyotrophic lateral sclerosis, Lou Gehrig's disease.
21岁时，英国物理学家史蒂芬·霍金被发现患上肌萎缩性脊髓侧索硬化症(简称als)，也称卢伽雷氏病。
At the age of 21, the British physicist Stephen Hawking was found to have 2 amyotrophic lateral sclerosis, Lou Gehrig's disease.
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