他的经历说明渐冻人即使不被治愈也可以存活很久吗？ 知乎用户，生物医学 本人目前在读生命医学科目，此时此刻就正在复习这一类疾病。 1、问题第一部分： 霍金能活这么长时间的原因，目前看来两个最基本的原因是： 他的病种很罕见，20 岁发病，属于 juvenile-onset type：这一类病人通常存活率都很高，甚至可以说不影响正常寿命[11]，原因未知； 他呼吸相关的肌肉没有收到影响（他没被接在呼吸机上）。（更正上午的答案，详细再查了一下发现霍金现在进食是靠护理人员直接将食物推进食管的[12]） 一旦病人不能自主呼吸就要靠呼吸机，而呼吸机的导管是直接插入气管的深部的。而任何细小的颗粒都可以附着细菌和病毒，基于尸检数据 ALS 最大的死因是肺部感染[1]，我猜测多数病人的医疗条件可能不足以让他们配备十分先进的呼吸机以提供高洁净度的空气。另外，呼吸机设定的气压不当还会损伤肺泡。我们一个医学院的学长去年调查了几家伦敦的医院，发现即使是在伦敦，呼吸机的使用状况也不是特别理想，不过在他们小组的努力下我们学校的医院有所改善。 2、问题第二部分： 他的经历说明渐冻人即使不被治愈也可以存活很久吗？ 首先，ALS 没有治愈手段，有的只是拖病情的手段。下面的采访中有提到只要你能呼吸能吞咽你的确可以活很久。事实上，ALS 的存活率没有一般人想象的那么吓人。根据美国 ALS 协会的数据，20%左右的人能存活 5-10 年，10%的人能存活 10-20 年，5%的人能存活 20 年以上。 How Has Stephen Hawking Lived Past 70 with ALS?[2] 《霍金得了 ALS 是怎么活过 70 岁的》 这篇采访出自《科学美国人》，美国历史最长的科普杂志，也是《Science》的姊妹刊，引用百度百科数据目前有 151 名诺贝尔得奖者撰稿。采访对象是 Leo McCluskey，University of Pennsylvania 的教授，一位 ALS 方面的专家。 What has Stephen Hawking's case shown about the disease? One thing that is highlighted by this man's course is that this is an incredibly variable disorder in many ways. On average people live two to three years after diagnosis. But that means that half the people live longer, and there are people who live for a long, long time. Life expectancy turns on two things: the motor neurons running the diaphragm—the breathing muscles. So the common way people die is of respiratory failure. And the other thing is the deterioration of swallowing muscles, and that can lead to malnutrition and dehydration. If you don't have these two things, you could potentially live for a long time—even though you're getting worse. What's happened to him is just astounding. He's certainly an outlier. 本人简单意译： 霍金的例子反应了什么？ ALS 是一个变种极其多样的疾病，虽然平均病人只能在诊断之后或两到三年，但这意味着另外一半的人活得更久，而且确实有人能活很久，很久。 ALS 病人的寿命主要由两件事决定：一是控制呼吸肌肉的横隔膜里的运动神经元，ALS 病人常见的死因是呼吸衰竭；二是吞咽肌肉的退化，这会导致病人脱水和营养不良。如果你没有这两样病状，你的确有可能活很久很久，即使你的病情在恶化。霍金的发病模式的确是一个罕见的情况。 Has he lived so long because he got the disease when he was young and had the juvenile-onset type? Juvenile-onset is diagnosed in the teenage years, and I don't know enough about his course to say. But it's probably something similar to juvenile-onset disorder, which is something that progresses very, very, very slowly. I have patients in my clinic who were diagnosed in their teens and are still alive in their 40s, 50s or 60s. But not having ever examined him or taken a history, it's a little hard for me to say. He's a very good example of the sparing of the non-motor parts of the brain that can occur. How much do you think Stephen Hawking's longevity has been due to the excellent care that he has received versus the biology of his particular form of ALS? It's probably a little bit of both. I just know him from television, so I don't know what kind of interventions he's had. If he really isn't on a ventilator, then it's his biology—it's the biology of his form of the neurodegenerative disease that determines how long he will live. For trouble swallowing you can elect to have a feeding tube placed, which basically takes malnutrition and dehydration off the table. But mostly it's about the biology of the disease. Hawking obviously has quite the active mind, and previous statements that he has made seem to indicate he has a pretty positive mental outlook, despite his condition. Is there any evidence that lifestyle and psychological well-being do much to help with patients' outcomes? Or is the disease usually too quick for that to make a difference? I don't believe that adds to longevity. 他活得久是不是因为他发病的时候很年轻，属于 juvenile-onset？ Juvenile-onset 指的是青少年时期发病（作者补充：一般指 25 岁以前的发病[10]），我不是很清楚他的病情历史，但可能是类似的情况。Juvenile-onset 类型的 ALS 通常发展非常，非常，非常缓慢。我有几个这样的活到 40，50，60 岁的病人。不过我没诊断过他，所以这个我不好说。 你认为霍金的长寿是因为他的治疗条件非常好还是因为他的病情特殊？ 可能两者都有。我不是很清楚他接受了什么治疗因为我只在电视上认识他。不过他既然没有在用呼吸机就应该是因为他的病情特殊导致他特别长寿。况且如果吞咽有问题以他的条件也可以用导管注入来解决。 霍金的大脑很活跃，他的言论也显示他的心理状况积极向上。有没有任何证据显示生活方式和心理健康对病情有影响？或者是通常疾病发病太快看不出来影响？ 我不相信这个能延长病人寿命 而在华盛顿日报的报道中：How Stephen Hawking, diagnosed with ALS decades ago, is still alive[3]，援引霍金本人的话是他在大三(1962-1963)的时候就感觉到了症状，圣诞节之后寻求治疗，维基百科上写他是 21 岁是被确诊[4]，而他的生日是 1 月 8 号，所以他应该是 20 岁的时候开始发病。 Reference [1]Corcia, P., Pradat, P. F., Salachas, F., Bruneteau, G., Le Forestier, N., Seilhean, D., ... & Meininger, V. (2008). Causes of death in a post-mortem series of ALS patients. Amyotrophic Lateral Sclerosis, 9(1), 59-62. [2]Harmon, Katherine. 'How Has Stephen Hawking Lived Past 70 With ALS?'.http://Scientificamerican.com. N.p., 2015. Web. 3 May 2015. [3]Washington Post,. 'How Stephen Hawking, Diagnosed With ALS Decades Ago, Is Still Alive'. N.p., 2015. Web. 3 May 2015. [4]Wikipedia,. 'Stephen Hawking'. N.p., 2015. Web. 3 May 2015. [5]Chun, J., & Hartung, H. P. (2010). Mechanism of action of oral fingolimod (FTY720) in multiple sclerosis. Clinical neuropharmacology, 33(2), 91. [6]Cluskey, S., and D. B. Ramsden. "Mechanisms of neurodegeneration in amyotrophic lateral sclerosis." Molecular Pathology 54.6 (2001): 386. [7]Valenzuela, M. J., Breakspear, M., & Sachdev, P. (2007). Complex mental activity and the aging brain: molecular, cellular and cortical network mechanisms. Brain Research Reviews, 56(1), 198-213. [8]Valenzuela, M. J., Sachdev, P., Wen, W., Chen, X., & Brodaty, H. (2008). Lifespan mental activity predicts diminished rate of hippocampal atrophy. PloS one, 3(7), e2598. [9]Brown, B. M., Peiffer, J. J., & Martins, R. N. (2013). Multiple effects of physical activity on molecular and cognitive signs of brain aging: can exercise slow neurodegeneration and delay Alzheimer’s disease&quest. Molecular psychiatry, 18(8), 864-874. [10]Turner, M. R., Barnwell, J., Al-Chalabi, A., & Eisen, A. (2012). Young-onset amyotrophic lateral sclerosis: historical and other observations. Brain, 135(9), 2883-2891. [11]Cleveland, D. W., & Rothstein, J. D. (2001). From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nature Reviews Neuroscience, 2(11), 806-819. [12]The Independent,. 'Mind Over Matter: How Stephen Hawking Defied Motor Neurone Disease For 50 Years'. N.p., 2012. Web. 3 May 2015. 查看知乎原文
