I was recently nominated by a dear friend to participate in the ALS ice bucket challenge. I cannot fully communicate how much I don’t feel like having a bucket of ice poured on my head right now, but I can’t argue with raising awareness. So I donated some change to what is an immensely worthy cause, and in the interest of awareness-raising I accessed some of those wonderful journals my med school subscribes to and put this together instead!
A guide to ALS for those who, like me, previously did’t know much about it!
ALS stands for “Amyotropic Lateral Sclerosis.”
A = no
myo = muscle
trophic = nourishment.
Amyotrophic means “muscles aren’t nourished” and in fact they waste away. This isn’t from lack of nutrients, however. It’s because the wires (neurons) connecting them to your conscious brain went down.
What’s Going On With Those Muscles and The Nerves Signaling To Them?
A lot of sources mention ALS is a disease of “upper motor neurons and lower motor neurons.” In short, this means it causes damage to the nerves (neurons) that directly control your muscles, AND to the nerves that send signals from your brain to those nerves directly controlling the muscles. Eventually those muscles will waste away.
What Happens If You Lose Control of Your Voluntary Muscles?
It’s as awful as it sounds; you lose the ability to control the muscles that are under voluntary control (muscles for throwing, muscles for walking, muscles for making soup and calling a friend and eventually muscles for eating, talking, and breathing.)
How Long Do People Live After A Diagnosis?
The life expectancy for people with this disease averages 2-5 years after a diagnosis is made. Death is generally from respiratory failure. People do live longer than 5 years, however. Stephen Hawking has a disease related to ALS, and he was diagnosed in 1963!
How Would I Know I Had It?
Early symptoms include muscle weakness or stiffness, and a slow paralysis. People may also notice twitching or spastic movement of these muscles (upper motor neurons help inhibit spastic movements, and if you destroy these you destroy their ability to keep spastic movements under control). Some people may notice difficult speaking or projecting their voice. Basically, the disease can develop differently for different people, but will affect their voluntary muscle control.
What Causes ALS?
The causes of this disease aren’t really known; about 10% of the people who have it inherited it from a family member, but for the other 90% of people no one really knows how they came down with it. Some hypotheses include head trauma, or toxic substances, a poor response to DNA damage in neurons, but again we don’t have any hard evidence on the causes for this disease. This makes prevention near impossible. It also means it could happen to pretty much anyone, there doesn’t seem to be a pattern. For some reason military veterans, particularly those who served during the Gulf War, are about twice as likely to get the disease. Clearly, a lot more research needs to be done into both the causes of this disease, and potential therapies to reverse the damage to these neurons.
What Can I Do?
The good news is, research into ALS will benefit those with ALS, but can also enlighten physicians and researchers about potential therapies for people suffering other neurological diseases like strokes and Alzheimer’s! A compelling reason to donate, if you haven’t yet.
And a post-script, for any other immunology/neuroscience nerds out there:
Some recent papers have suggested that ALS is a product of neuroinflammation, a process normally regulated by microglial cells. There is some evidence that Th1 and Th17 CD4+ T cells drive this chronic neuroinflammation, and Th2 cells exert a neuroprotective effect. So for individuals suffering from ALS, there may be an imbalance between these neuroprotective and neuroinflammatory T cells. Currently, the process by which microglial cells get activated isn’t well understood, but figuring this out could help treat other diseases caused by neuroinflammation (stroke, infections, other neurodegenerative diseases like Alzheimer’s).