ALS or Amyotrophic Lateral Sclerosis is arguably one of the worst diagnoses an individual could receive. It was first identified right after the civil war, but it didn't gain widespread international attention until 70 years later when one of baseball finest players, the Iron Horse came down with the disease that now bears his name. This progressive, devastating and fatal muscle wasting disease essentially melts you like a candle. The disease typically starts at the periphery and eventually works towards your body's core. The cause is still widely unknown; however, researchers believe the underlying cause could be seated in gene mutations, protein mishandling, or potentially autoimmune or even environmental triggers. Due to the nature of the disease, it robs the patient the ability to walk first. Voluntary movements and muscle control are lost. In its last stages the diaphragm and eventually breathing stops. As you can imagine death is usually centered around respiratory failure, severe airway compromise, or sepsis.
At first the symptoms may be vague. The patient may notice that they can't hold a pen or lift a coffee mug. This is commonly referred to as "limb onset". Another individual may notice changes in their voice, this is rarer and called "bulbar onset". However, the end point of the disease looks nearly the same in all affected patients. At the end of the day, unfortunately it is a terminal diagnosis. Many disease-related statistics reveal that 8/10 patients will die within 5 years, but like most illnesses, there are exceptions to the rule - For example, renowned physicist Stephen Hawking lives for 5 decades, which is nearly unheard of.
From the image above, you can see the affected muscle loses the ability to contract. The muscle on the right has obvious atrophy and loss of mass. The nerve itself is suffering a loss of function primarily because of scarring or sclerosis. In this case, and specifically with ALS, both the upper and lower motor neurons are negatively affected. In a disease-free state these two types of neurons should work in concert. Upper motor neurons - are found in the cerebral cortex and the brainstem. They carry information to the lower motor neurons. These lower neurons act as a bridge and innervate skeletal muscle which allows for contraction.
Research is very much alive in this area of medicine, especially in Jackson Hole, WY. It is very timely given this blog release, but just last week, a new blood test has been found to detect ALS with nearly 100% accuracy, offering hope for an earlier diagnosis. Historically because the early stages of the disease can mimic dozens of other problems - getting a definite diagnosis has been extremely challenging for clinicians, but also frustrating for both patients and their families. It is not uncommon for a diagnosis to come > 12 months after symptom onset. * Of note, the above-mentioned blood test (via Brain Chemistry Labs) is still in the process of getting final regulatory approval.
If you'd like a better understanding of what day to day life with ALS looks like, including how it progresses through the various body systems, I'd highly suggest one of my favorite films, Tuesdays with Morrie. This film is based on the story of retired Brandeis University Sociology Professor, Morrie Schwartz. Countless information around his story can be found far and wide across the internet. A really wonderful story about how we should all go about living our lives -- even in the face of adversity.
September 16, 2024
Author: Joshua Ishmael, MBA, MLS(ASCP)CM, NRP
Pass with PASS, LLC
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