What is ALS? The Real Challenge

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The “Ice Bucket Challenge” helped raise over $100 million for ALS research in little more than a month. This is a staggering 3,500% increase from the $2.8 million that the ALS Association raised during the same time period in 2013. Such a viral craze has the power to bring about tangible change. But is that impact diminished if most participants have no semblance of an idea as to what the challenge was about… or at the very least, what ALS stands for?

I admit to having a personal stake in this. My mother’s father, Martin Greene, was a victim of ALS. He died long before I was born, so I never got to meet him, but I did get to hear family stories. My father told me how had to carry the 6’5″ man from the “chair lift” to a wheelchair, and how his 17-year old daughter (my mother) had to wash his misshapen and immobile hands for him. According to my parents, the depiction of ALS in The Theory of Everything was uncannily accurate. But, above all else, my mother also tells me how brilliant, kind and full of life my grandfather was, rightfully focusing on the man he was before the illness pillaged him.

While I have these anecdotes, I confess, I am far from an expert on the condition. In the end, I had to do what everyone who hasn’t gone to medical school has to do: educate myself. I wanted to know, beyond the hashtags, selfies and “up-votes,” what was the Ice Bucket Challenge actually challenging?

What is ALS?

Amyotrophic Lateral Sclerosis (ALS) often referred to as Lou Gehrig’s Disease is a rapidly progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord.

It is characterized by the degeneration and eventual loss of the upper and lower motor neurons responsible for controlling voluntary muscles. In essence, ALS disables the brain from sending messages to the spinal cord, and from the spinal cord to the muscles. In the end the brain loses the ability to wilfully control muscles. ALS is one of the most common motor neuron diseases, affecting approximately 1.5 to 2.5 per 100,000 people every year worldwide.

ALS is most commonly found in adults between the ages of 40 and 60 years old. It has not been found to affect any single race and/or ethnic background more than any other. While, overall, it is of unknown etiology, a genetic basis has been linked to approximately 10% of cases. Studies have linked 10 identifiable genes to ALS and other motor neuron diseases (including a mutation of the enzyme superoxide dismutase 1, found by Rozen and colleagues in 1993).

Typical symptoms of upper motor neuron (UMNs) degeneration include motor weakness, spasticity, hyperreflexia, and extensor plantar response. Signs of lower motor neurons (LMNs) degeneration include muscle weakness, hypotonia, hyporeflexia, and muscle atrophy. Such signs manifest in patients exhibiting impairment in walking, swallowing (dysphagia), speaking (dysarthia), and eventually breathing. Patients are also known to experience twitches of muscles that can be seen under the skin (fasciculations).

Respiratory complications are a major cause of morbidity and mortality that are typically seen in later stages of the disease. Within 3-5 years from the initial onset of symptoms, most patients will loose the ability to breathe on their own and eventually require mechanical ventilation and support. Unfortunately, no significant disease-modifying therapy has proven effective to date.

In patients with bulbar ALS, early tongue fasciculation and pharyngeal muscle weakness may lead to an increased risk for aspiration. In classic ALS, muscles of the tongue, pharynx, larynx, and chest become weakened and eventually atrophy. These changes are associated with decreased vital capacity, maximum voluntary ventilation, and expiratory muscle reserve leading to respiratory failure and the need for ventilatory support.

Although deterioration of motor neurons is the pathologic hallmark of ALS the interaction between non-neuronal cells and motor neurons play a key role in motor neuron degeneration. There is an increasing amount of evidence suggesting that the neuromuscular junction (NMJ) and the distal axons are early and important pathologic targets of ALS. The NMJ is a synapse specifically controlling neuron (or nerve cell) communication between muscle and nerves necessary for skeletal muscle function.

It should be well noted that ALS is a fairly capricious disease. As such, no two people reveal the exact same symptoms or have the same experience. Stephen Hawking demonstrates this fact, by having a particularly unique form of motor neuron disease, whose symptoms have an entirely dissimilar manifestation, not in line with classic ALS.

While today there is no cure or therapeutic treatment that stops or reverses ALS, our understanding of this horrible disease continues to grow with new and evolving clinical trials. Studies conducted by the ALS Association, the Cleveland Clinic, and others are holding more promise everyday and efforts like the Ice Bucket Challenge, should only be encouraged and our spirits never diminished. We must all be encouraged help spread awareness, gain understanding and support the clinical efforts of the medical community.

In Memory of Martin Greene

References

Adler AC, Lakhan SE, Man S. CME Lesson 301: PreAnesthetic Assessment of the Patient with Amyotrophic Lateral Sclerosis. Anesthesiology News. December 2012;33-36.

Image via Wanphen Chawarung / Shutterstock.

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