Introduction
Amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, is a degenerative neurological illness that impacts the motor neurons responsible for voluntary muscle control. The disease is highly debilitating and can result in severe disabilities and even death.
People with a family history of genetic diseases need to be tested earlier. Getting tested is daunting and causes anxiety for many people, but it is the only way to take proactive steps to manage health risks. Knowing one’s genetic status can also be important for a person’s relatives, siblings, or children. They may also be tested to determine their own risk and make decisions about their health.
In today’s world, there are many opportunities to lead a healthy lifestyle, eliminate factors that accelerate the development of the disease, and participate in monitoring and clinical trials. Having a potential genetic disease is not a death sentence, and testing can help you rethink your lifestyle and devote more time to health, family, and career fulfillment.
General Description and Symptoms
ALS (Amyotrophic Lateral Sclerosis) is a progressive neurodegenerative disease that affects the nerve cells that control voluntary muscles. The disease affects the brain’s and spinal cord’s upper and lower motor neurons, which are responsible for controlling muscle movement (Joyce et al., 2022). In ALS, motor neurons degenerate and die, so people lose muscle function (Joyce et al., 2022).
As ALS progresses, the patient’s muscles weaken and wear out, resulting in loss of movement. It can also affect vital functions such as breathing, speech, and swallowing (Joyce et al., 2022). Muscles affected by amyotrophic lateral sclerosis may also experience spasticity or stiffness, which can cause muscle cramps and spasms.
Early symptoms of ALS are easy to overlook, as they are mistaken for simple weakness, overtraining, or are associated with other illnesses. Initially, symptoms may include muscle weakness, twitches, or cramps, which may occur in one or more limbs (Joyce et al., 2022). As people with ALS progress, they may have difficulty speaking, slurring words, or making sounds.
They may also have difficulty swallowing, leading to choking or aspiration pneumonia (Joyce et al., 2022). As the disease progresses, people with ALS may experience muscle wasting, leading to loss of mobility and strength. Thus, ALS symptoms affect all types of muscle movement and can affect a person’s ability to move, communicate, and breathe.
Possible Causes
The exact mechanism that causes motor neuron degeneration is not fully understood, but scientists think it is a complex interaction between genetic and environmental factors. There is no test to define ALS; a complete clinical examination, including electromyography, nerve conduction studies, and imaging tests (MRI or CT), is required (Joyce et al., 2022).
Blood and urine tests may also be performed to exclude other possible causes of symptoms, such as infections or autoimmune diseases (Joyce et al., 2022). Genetic testing may also be considered in some cases, especially for people with a family history of amyotrophic lateral sclerosis. Modern research also shows that environmental and lifestyle factors contribute to the development of ALS.
First, exposure to pesticides, heavy metals, and organic solvents has been associated with an increased risk of developing ALS (Newell et al., 2021). Second, smoking, alcohol consumption, and a sedentary lifestyle may also increase the risk of developing the disease (Newell et al., 2021). Third, it is possible that some infections, such as Mycobacterium avium subspecies paratuberculosis, may be associated with the development of ALS (Pierce, 2018).
Moreover, several factors can accelerate the course of the disease, including infections, injuries, and surgeries (Newell et al., 2021). In addition, emotional stress and anxiety can exacerbate ALS symptoms and reduce the quality of life (Newell et al., 2021). That is why a genetic test for ALS could help a person avoid negative factors, start preventive physical therapy, and follow new treatment methods.
Treatment
Nowadays, there is no cure for ALS, and treatment is mainly aimed at managing symptoms and slowing the progression of the disease. One of the few FDA-approved drugs for treating ALS is edaravone, which has been shown to delay functional decline over a limited period (Cho & Shukla, 2020). However, edaravone is only effective in a subset of people with ALS. Other drugs used to treat ALS include riluzole, which prolongs survival marginally (Cho & Shukla, 2020). Other drugs are used off-label to relieve symptoms such as spasticity and pain.
In addition to pharmacological treatments for ALS, non-drug approaches are also being explored. Biomaterials such as stem cells and extracellular vesicles are being investigated as potential treatments for ALS (Ahadiat & Hosseinian, 2022). These biomaterials can help regenerate damaged motor neurons and restore muscle function. Other therapies, such as physical and speech therapy, may also help manage symptoms and maintain the quality of life of people with ALS.
Conclusion
The nerve cells that regulate voluntary muscles are impacted by the debilitating neurological condition known as ALS. The illness is extremely incapacitating and can cause serious impairments or even death. Although the precise origin of ALS is unknown, a complex interplay between environmental and genetic variables is believed to be responsible. Lou Gehrig’s disease has no known cure; however, some medications can help control symptoms and decrease the disease’s course. Research is still being done to create novel therapies that might one day provide a cure by focusing on the disease’s fundamental processes.
References
Ahadiat, S. A., & Hosseinian, Z. (2022). The Role of Biomaterials in Treating Lou Gehrig’s Disease. Archives of Neuroscience, 9(4). Web.
Cho, H., & Shukla, S. (2020). Role of edaravone as a treatment option for patients with amyotrophic lateral sclerosis. Pharmaceuticals, 14(1), 29. Web.
Joyce E, González-Hijón J, Chourpiliadis C, Lovik A, Seitz C, Cui C, Sun J, Hu Y, Pan L, and Andersson J. (2022). Lou Gehrig’s Disease: Amyotrophic Lateral Sclerosis. Frontiers for Young Minds, 10, 812576. Web.
Newell, M. E., Adhikari, S., & Halden, R. U. (2021). Systematic and state-of-the-science review of the role of environmental factors in Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s Disease. Science of the Total Environment, 152504. Web.
Pierce, E. S. (2018). How did Lou Gehrig get Lou Gehrig’s disease? Mycobacterium avium subspecies paratuberculosis in manure, soil, dirt, dust and grass and amyotrophic lateral sclerosis (motor neurone disease) clusters in football, rugby and soccer players. Medical Hypotheses, 119, 1-5. Web.