Amyotrophic Lateral Sclerosis (ALS), often referred to as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects motor neurons. These specialized nerve cells extend from the brain to the spinal cord and then to muscles throughout the body, serving as the pathway for communication between the nervous system and voluntary muscles. In ALS, the motor neurons progressively degenerate and die, disrupting this crucial communication system.
When motor neurons are lost, the brain’s ability to initiate and control muscle movement is impaired and eventually lost. This degeneration leads to muscle weakness, twitching, and atrophy. As voluntary muscle action is increasingly affected, individuals with ALS may experience a loss of ability to perform everyday actions such as speaking, swallowing, moving their limbs, and even breathing.
The motor nerves impacted by ALS are those controlling voluntary movements and muscle control. Voluntary movements are conscious actions like reaching for an object or walking. These actions rely on muscles in the arms, legs, face, and torso, all of which can be affected by ALS as the disease progresses.
ALS was first discovered in 1869 by French neurologist Jean-Martin Charcot. It is a condition that can affect anyone, regardless of age, race, or socioeconomic background. Cases of ALS are generally categorized into two main types based on their origin:
- Sporadic ALS: This is the most common form, accounting for approximately 90% of all ALS cases. In sporadic ALS, there is no known family history of the disease or identifiable genetic mutation linked to its development. The cause of sporadic ALS remains largely unknown.
- Familial ALS: This form represents 5-10% of ALS cases and is characterized by a known family history of the disease. Familial ALS is often linked to inherited genetic mutations. In families with familial ALS, there is a 50% chance that each child will inherit the gene mutation and may subsequently develop the disease.
Interestingly, military veterans have been observed to be diagnosed with ALS more frequently than the general population. The reasons for this increased risk are still under investigation.
Significant advancements in understanding the physiology of ALS have been made in recent years, leading to the development of treatments aimed at managing the disease and its symptoms. Currently, there are seven medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of ALS and its symptoms. These include Qalsody, RELYVRIO, Radicava, Rilutek, Tiglutik, Exservan, and Nuedexta.
UPDATE – APRIL 2024: It is important to note that Relyvrio was voluntarily withdrawn from the market by Amylyx after a phase 3 clinical trial did not demonstrate its effectiveness. Despite this, organizations like The ALS Association initially supported the early approval of Relyvrio based on promising phase 2 trial data and the treatment’s safety profile. The decision to support early access was based on the principle of providing potential benefit while minimizing harm, acknowledging the urgent need for effective treatments for ALS. This information is retained for transparency and historical context as research continues to seek life-saving therapies for ALS.
Ongoing research efforts worldwide, many supported by The ALS Association, are focused on developing more effective treatments and ultimately a cure for ALS. Scientists are making substantial progress in understanding the mechanisms of the disease, identifying biomarkers for diagnosis and treatment monitoring, and exploring potential preventative strategies for ALS. For further information, you can Learn more about ALS research.
Beyond medical treatments, support services play a crucial role in enhancing the quality of life for individuals living with ALS. Participating in support groups and accessing specialized care at The ALS Association’s Certified Treatment Centers of Excellence or Recognized Treatment Centers can significantly benefit patients. These centers offer a multidisciplinary approach to care, adhering to national best-practice standards to manage symptoms and empower people with ALS to live as independently and fully as possible for as long as possible.
Clinical studies, such as those cited in the American Academy of Neurology’s Practice Parameter Update, have demonstrated that multidisciplinary care in specialized ALS clinics can contribute to prolonged survival and improved quality of life for patients.
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