目的探讨脊肌萎缩症的临床特点和遗传方式。
Objectives To investigate the clinical features and the onset pattern of spinal muscular atrophy.
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.
婴儿型进行性脊肌萎缩症是一种少见的运动神经元性疾病。
Infantile progressive spinal muscular atrophy is an unusual motor neuron disease.
目的：回顾性分析24例腓骨肌萎缩症的临床与神经电生理特点。
AIM: To retrospectively analyze the clinical and electrophysiological features of the peroneal muscular atrophy PMA in 24 cases.
美国医学遗传学和基因组学院也建议进行囊性纤维化和肌萎缩症筛查。
The American College of Medical Genetics and Genomics also recommends screening for CF and SMA.
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.
目的探讨确诊为PMP22大片段重复突变腓骨肌萎缩症（CMT）患者的临床特点。
Objective To analyze the clinical features of CMT patients with PMP22 duplication.
方法采用实时荧光定量PCR检测113个腓骨肌萎缩症家系先证者、4个遗传性压力易感性神经病家系先证者和50名正常人PMP22基因重复或缺失突变。
Methods Duplications or deletions of?PMP22gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR. Results (Thirty-six) of 113 CMT cases had the?
根据解剖学资料和在尸体上的摹拟观察，分析讨论了排球运动员冈下肌萎缩症的原因，认为肩胛上神经在冈盂切述处受绞勒性损伤的可能性最大，并提出了手术治疗的意见。
Some simulating actions of the volleyball player were studied on the cadavers. The cause of onset of the infraspinatus atrophy in volleyball athletes were analysed and discussed. Injury of the…
我可以选择把肌萎缩性侧索硬化症仅仅看作是一个死亡的宣判，我也可以选择将他看作是一个邀请-一个真正认识我自己的机会。
I can choose to see ALS as nothing more than a death sentence or I can choose to see it as an invitation - an opportunity to learn who I truly am.
但这也许与霍金无关自从他得了ALS(肌萎缩性侧索硬化症)。
But that's probably not the deal with Hawking, since he's got ALS.
还募集资金：他们参加了研究癌症的铁人10K，为与肌萎缩侧索硬化症作斗争而步行，为战胜肺癌而跑步。
They also raised money: Theyparticipated in the Ironman 10K for cancer research, walked to battleALS, and ran to defeat lung cancer.
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.
我被症断患有肌萎缩性侧索硬化症之后的生活，就像受保护的证人一样。
Living with ALS seems a bit like going into the witness protection program.
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.
费城-很多年来，医生们已发现一些肌萎缩性侧索硬化症患者也承受着一种痴呆的痛苦。
PHILADELPHIA - Doctors have known for years that some people with Lou Gehrig's disease also suffer from a type of dementia.
而痴呆患者中的一些也有类似肌萎缩性侧索硬化症的跛行症状，且逐渐丧失对肌肉的控制。
And some with that dementia also develop crippling symptoms like Gehrig's, gradually losing control of their muscles.
什么是肌萎缩型侧索硬化症(ALS)，也称运动神经元症(MND) ？囹。
What is amyotrophic lateral sclerosis (als), also known as motor neurone disease (MND)?
目的：分析肌萎缩侧索硬化症临床常用的4种评分方法之间的相关性，评价其临床应用中的一致性与协同效应。
AIM: To analyze the correlation of the 4 clinical scale methods of amyotrophic lateral sclerosis and evaluate the concordance and synergistic effect in the application of clinic.
我可以选择把肌萎缩性侧索硬化症仅仅看作是一个死亡的宣判，我也可以选择将他看作是一个邀请-一个真正认识我自己的机会。
I can choose to see ALS as nothing more than a death sentence or I can choose to see it as an invitation? An opportunity to learn who I truly am.
结论全面细致的护理与病情观察有利于神经痛性肌萎缩的恢复，减少并发症。
ConclusionThe careful nursing and observation is very helpful for recover of neuralgic amyotrophy and can decrease complications.
目的研究肌萎缩侧索硬化症(ALS)患者非锥体束区域磁共振扩散张量成像(dti)的特点。
Objective Investigate MR resonance diffusion tensor im-aging (DTI) characteristics of non-pyramid tracts in the patients with amyotrophic lateral sclerosis (ALS).
构音障碍是帕金森氏症，脑瘫，肌萎缩性侧索硬化症等疾病的常见症状，也是脑卒中的常见并发症。
Dysarthria is a frequent symptom found in conditions such as Parkinson's disease, cerebral palsy, amyotrophic lateral sclerosis, as well as being a complication of stroke.
构音障碍是帕金森氏症，脑瘫，肌萎缩性侧索硬化症等疾病的常见症状，也是脑卒中的常见并发症。
Dysarthria is a frequent symptom found in conditions such as Parkinson's disease, cerebral palsy, amyotrophic lateral sclerosis, as well as being a complication of stroke.
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