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Amyotrophic lateral sclerosis, or Lou Gehrig’s disease, is a progressive neurological disease that currently has no cure, despite being discovered over 150 years ago. This fatal disease causes degeneration of neurons that are responsible for controlling voluntary muscles. On average, most people with ALS live for a maximum of five years after initial symptoms are discovered.
ALS is the most common motor neuron disease – an amalgamation of a complex group of diseases with more than one pathway jeopardizing the entire nervous system. The motor neurons are the nerve cells that allow the body to communicate with itself, sending messages to and from the brain and the muscles. They are essentially what enable us to move our legs, arms, and face muscles.
Motor neuron diseases are neurodegenerative (and incurable), causing these neurons that run from the brain to the spinal cord to gradually lose function and die. This means that the brain no longer has control over muscle movement, and a vital link in the network is severed.
ALS attacks both nerve cells in the brain (the upper motor neurons) and lower motor neurons (of the brain stem and spinal cord). With this breakdown in the communication chain, the muscles first fasciculate, then atrophy all together. When the brain cannot control any of the voluntary muscles, their simultaneous weakness and stiffness affect everything from the basic process of breathing to everyday functions such as speaking, eating, and moving.
Ultimately, the body cannot breathe unsupported once it loses control over the diaphragm. Hence, the body’s respiratory failure is what claims most patients of ALS, putting their life expectancy at 3 to 5 years after these symptoms are first discovered.
How common is it and who is at risk?
ALS is a rare neurodegenerative disease affecting people of all races and ethnicity. While the child of a patient with ALS has a 50% chance of developing it themselves, only 10% of reported ALS cases are genetic, with some reports putting the number between 10% and 5%: this means that around 90% of cases are sporadic and without apparent cause.
Environmental factors are also important to consider here, as ALS is considered a “rare” disease (despite high-profile patients such as Stephen Hawking and Lou Gehrig). These factors include certain lifestyle choices such as smoking, military service or exposure to a high level of agricultural chemicals. The research on this is also inconclusive, with no link between correlation and causation.
Some causes that are being studied as possible answers to the origin of ALS include the nerve cells being attacked by the immune system itself, or the chemical imbalance in most patients of ALS, with a high level of the chemical messenger glutamate, which is understood to be toxic to nerve cells. Protein is also potentially mishandled within the nerve cells, leading to the abnormality observed in their presence in ALS patients.
An interesting avenue that is currently being explored is the link between ALS and FTD (frontotemporal dementia), with the discovery of a mutual defect in the C9ORF72 gene. The research around this at present is focusing on creating a drug that can stabilize the levels of the TDP-43 protein at the center of both these problems.
What are the symptoms?
The foremost symptom of ALS that exists in patients across all ages is a general clumsiness due to the weakening of stiff muscles, commonly referred to as spasticity. Everyday tasks such as dressing up, turning keys, or even walking and running, become visibly disrupted and difficult. Fasciculations are also common, particularly along the tongue (which is uncommon in daily life), limbs, and shoulders. The long fibers called axons that extended from the nerves degenerate, causing these muscle twitches and cramps.
Slurred speech, dysphagia, and bulbar symptoms are also common. When bulbar symptoms present themselves, mouth functions such as speaking and swallowing are visibly affected.
The other side, limb-onset ALS, first shows symptoms in the legs and arms. Either way, the symptoms will travel from limb to bulbar or bulbar to limb and ultimately patients are unable to walk, stand, or even use their limbs unsupported.
What ALS does not affect is involuntary muscles: sexual functions, sight, the bowel movement, the bladder control, all remain unaffected. There is also growing evidence linking ALS and dementia, but cognitive abilities are largely retained. However, this has been shown to contribute to mental illnesses such as anxiety and depression, as the patient’s mind is cognizant of the physical degeneration.
How is it diagnosed?
The difficulty in diagnosing ALS seems evident. Yet, a thousand to 3000 cases are diagnosed each year in the US, with the projection holding true for a worldwide scenario. To diagnose ALS is a matter of ruling out other diseases first. By process of elimination, utilizing electromyography or MRI tests, the early symptoms can be diagnosed. However, an added complication lies here in the fact that some patients do not present with lower motor neuron degeneration at all, with a gap of three to five years before this might appear after the initial degeneration of upper motor neurons.
Thus, a common test to determine the presence of ALS is a nerve conduction study, wherein the electrical activity of the muscles and nerves is tested. This is done to eliminate the possibilities of peripheral neuropathy or myopathy. The MRI scans also work in a similar way, ruling out (or correctly diagnosing) several other problems such as syringomyelia or cervical spondylosis.
What are the treatment options available?
Treatment, when it comes to ALS, is largely about research at this point. At the time of writing, as of mid-2019, there is no cure for ALS available.
Many with ALS find support in medication, symptomatic treatments, and preventions, as well as physical and speech therapy. The everyday lives of those with ALS are thus focused on as something to be improved and managed to eradicate problems that can be considered complicated and unnecessary.
For this, two FDA-approved drugs have been shown to prolong longevity in patients, namely Rilutek and Radicava. Specifically, Radicava controls the decline of functionality and Riluzole decreases the glutamate present in the brain thus aiming to increase survival by a few months but neither can cure the disease or the damage already done.
Since ALS patients are also treated with speech and breathing therapy, it is interesting to note that ALS Worldwide has reported a study-backed personal experience of Transcendental Meditation helping to alleviate symptoms of ALS, particularly to deal with both physical and mental pain.
Ultimately, while awareness movements have contributed greatly to the cause in recent years, there is still much to be done for those with ALS. Readers can help fund research by donating to the ALS Association online in a number of ways, even including integration with services such as Amazon and Lyft to help a portion of their proceeds to go to ALSA, or through the AdWap service, converting online ads into revenue that directly goes to charities you choose, including ALS research.
Learn more about ongoing clinical studies sponsored by R3 Stem Cell HERE.