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In 1963, a 21-year-old physicist named Stephen Hawking
1963年，21岁的物理学家斯蒂芬·霍金
was diagnosed with a rare neuromuscular disorder called amyotrophic lateral sclerosis, or ALS.
被诊断出一种罕见的神经肌肉失调症，称为肌萎缩侧索硬化，也称为ALS。
Gradually, he lost the ability to walk, use his hands, move his face, and even swallow.
霍金逐渐不能行走，无法使用双手，不能做出面部动作，甚至不能吞咽。
But throughout it all, he retained his incredible intellect,
但尽管如此，他仍保留了惊人的才智，
and in the more than 50 years that followed, Hawking became one of history's most accomplished and famous physicists.
在接下来的50多年中，霍金成为了历史上最著名、最有成就的物理学家之一。
However, his condition went uncured and he passed away in 2018 at the age of 76.
然而他的疾病依然未得到治愈，霍金于2018年去世，享年76岁。
Decades after his diagnosis, ALS still ranks as one of the most complex, mysterious, and devastating diseases to affect humankind.
自霍金被诊断后的数十年来，ALS仍然是最复杂、最难以理解、对人类伤害最大的疾病之一。
Also called motor neuron disease and Lou Gehrig's Disease, ALS affects about two out of every 100,000 people worldwide.
这种疾病也被称为运动神经元病、卢伽雷病，世界上每10万人中便有2人患有ALS。
When a person has ALS, their motor neurons, the cells responsible for all voluntary muscle control in the body, lose function and die.
患上ALS时，负责控制身体全部随意肌的细胞，即运动神经元，会失去功能，然后死亡。
No one knows exactly why or how these cells die and that's part of what makes ALS so hard to treat.
没有人知道这些细胞死亡的确切原因及方式，这也是ALS难以治愈的原因之一。
In about 90% of cases, the disease arises suddenly, with no apparent cause.
在90%的病例中，ALS突然发作并且没有明显的病因。
The remaining 10% of cases are hereditary, where a mother or father with ALS passes on a mutated gene to their child.
余下10%的病例则是通过遗传获得，患者的父亲或母亲患有ALS并将突变基因传给孩子。
The symptoms typically first appear after age 40.
ALS的症状通常在40岁时初次出现。
But in some rare cases, like Hawking's, ALS starts earlier in life.
但个别病例，例如霍金，ALS的发病更早。
Hawking's case was also a medical marvel because of how long he lived with ALS.
霍金在患有ALS的情况下生活了很长一段时间，这也是一项医学奇迹。
After diagnosis, most people with the disease live between 2 to 5 years before ALS leads to respiratory problems that usually cause death.
大部分患者在诊断后只有2-5年的寿命，因最终ALS会使呼吸困难进而导致死亡。
What wasn't unusual in Hawking's case was that his ability to learn, think, and perceive with his senses remained intact.
霍金身上不寻常的一点在于，他的学习能力、思考能力以及通过感官认知的能力都毫发无伤。
Most people with ALS do not experience impaired cognition.
大多数患有ALS的患者不会出现认知受损。
With so much at stake for the 120,000 people who are diagnosed with ALS annually,
患上ALS要面临如此多的风险，而每年都有12万人次被诊断出患有该疾病，
curing the disease has become one of our most important scientific and medical challenges.
治愈这种疾病已成为最为重要的科学及医疗难题之一。
Despite the many unknowns, we do have some insight into how ALS impacts the neuromuscular system.
尽管仍有大量未知，我们对ALS如何影响神经肌肉系统已有所了解。
ALS affects two types of nerve cells called the upper and lower motor neurons.
ALS会影响两种类型的神经细胞，上运动神经元和下运动神经元。
In a healthy body, the upper motor neurons, which sit in the brain's cortex,
在健康的身体中，位于大脑皮层的上神经元细胞
transmit messages from the brain to the lower motor neurons, situated in the spinal cord.
将大脑发出的信号传递给下运动神经元，下运动神经元位于脊髓中。
Those neurons then transmit the message into muscle fibers, which contract or relax in response, resulting in motion.
这些神经元再将信息传递给肌肉纤维，使其做出收缩或放松的反应，完成动作。
Every voluntary move we make occurs because of messages transmitted along this pathway.
我们做出的每个自发性动作，都是由于信息沿神经通路传导。
But when motor neurons degenerate in ALS, their ability to transfer messages is disrupted,
但患上ALS时运动神经元退化，其传输信息的能力中断，
and that vital signaling system is thrown into chaos.
重要的信号系统陷入混乱。
Without their regular cues, the muscles waste away.
没有了规律的信号指令，肌肉很快萎缩。
Precisely what makes the motor neurons degenerate is the prevailing mystery of ALS.
ALS最大的谜团在于运动神经元退化的确切原因。
In hereditary cases, parents pass genetic mutations on to their children.
在遗传患病的病例中，父母将基因突变传递给孩子。
Even then, ALS involves multiple genes with multiple possible impacts on motor neurons, making the precise triggers hard to pinpoint.
此时仍有多个基因与ALS相关，对运动神经元造成的可能影响也有多个，因此，精准锁定疾病的诱发因素十分困难。
When ALS arises sporadically, the list of possible causes grows:
当ALS症状偶有发生，可能致病的因素会越来越多，
toxins, viruses, lifestyle, or other environmental factors may all play roles.
毒素、病毒、生活方式、其他环境因素等，它们都可能会产生一定影响。
And because there are so many elements involved, there's currently no single test that can determine whether someone has ALS.
由于涉及到如此多的因素，目前没有单一的测试能够确定患者是否患上了ALS。
Nevertheless, our hypotheses on the causes are developing.
尽管如此，我们对于患病原因的推想仍在发展。
One prevailing idea is that certain proteins inside the motor neurons aren't folding correctly, and are instead forming clumps.
一个主流观点认为在运动神经元中，某种特定蛋白没有正确折叠，反而聚集成块。
The misfolded proteins and clumps may spread from cell to cell.
错误折叠的蛋白质和块状结构可能会扩散到其他细胞，
This could be clogging up normal cellular processes, like energy and protein production, which keep cells alive.
这可能会堵塞正常的细胞进程，例如能量和蛋白质的产生过程，这一过程能保持细胞充满活力。
We've also learned that along with motor neurons and muscle fibers, ALS could involve other cell types.
我们也已经知道，除了运动神经元和肌肉纤维，ALS也涉及到其他细胞类型。
ALS patients typically have inflammation in their brains and spinal cords.
ALS患者的大脑和脊髓通常都有炎症。
Defective immune cells may also play a role in killing motor neurons.
有缺陷的免疫细胞可能也会消灭运动神经元细胞。
And ALS seems to change the behavior of specific cells that provide support for neurons.
ALS似乎能够改变某种特定细胞的行为，这种细胞为神经元提供支持。
These factors highlight the disease's complexity,
这些因素表明了ALS疾病的复杂性，
but they may also give us a fuller understanding of how it works, opening up new avenues for treatment.
但是它们也让我们更全面地了解发病机制，为治疗打开了新的大门。
And while that may be gradual, we're making progress all the time.
虽然进程也许缓慢，但我们一直在取得进步。
We're currently developing new drugs, new stem cell therapies to repair damaged cells,
我们现在正在开发新药、新的干细胞疗法用来修复受损细胞，
and new gene therapies to slow the advancement of the disease.
以及新的基因疗法用以减缓疾病发展速度。
With our growing arsenal of knowledge, we look forward to discoveries that can change the future for people living with ALS.
在不断积累知识储备的同时，我们期待能够有新的发现，来改变ALS患者的未来。
