Amyotrophic Lateral Sclerosis (ALS), often referred to as Lou Gehrig's disease, is a devastating neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. It is characterized by the progressive degeneration of these neurons, leading to a wide range of debilitating symptoms and, ultimately, death. ALS has captured the attention of both the medical community and the public due to its mysterious nature and the challenges it poses in terms of diagnosis, treatment, and understanding its underlying causes. 

”Amyotrophic” comes from the Greek language. "A" means no. "Myo" refers to muscle.  "Trophic" means nourishment. So, amyotrophic means "no muscle nourishment,” and when a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located.

The exact cause of ALS remains unknown, but a combination of genetic and environmental factors is believed to contribute to its development. Approximately 10% of ALS cases are considered familial, meaning they are inherited from a family member with the disease. Mutations in genes such as SOD1, C9orf72, and FUS have been linked to familial ALS. The remaining 90% of cases are sporadic, where no clear genetic link is identified, but various genetic and environmental factors are thought to play a role.

Certain risk factors have been associated with ALS, including age, as the disease typically strikes individuals between the ages of 40 and 70, with the average age of onset around 55. Men are also slightly more likely than women to develop ALS. Environmental factors, such as exposure to certain toxins and chemicals, have been investigated, but no definitive causative agents have been identified.

-For about 90% of all cases, there’s no known family history of the disease or presence of a genetic mutation linked to ALS.

-For 5-10% of all cases, there’s a known family history of the disease. This is often called familial ALS.

In families with familial ALS, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease. For unknown reasons, military veterans are more likely to be diagnosed with the disease than the general public.

ALS is a disease that primarily affects the motor neurons responsible for controlling voluntary muscle movement. As these neurons degenerate and die, patients experience a range of symptoms, including muscle weakness, twitching (fasciculations), and muscle atrophy. Initial signs often involve difficulty with fine motor tasks, such as buttoning a shirt or gripping objects. Speech and swallowing difficulties may also arise as the disease progresses. Eventually, ALS leads to paralysis and respiratory failure, making it a terminal illness. 

Diagnosing ALS can be challenging, as its symptoms can mimic those of other neurological conditions. Typically, a diagnosis of ALS is based on clinical examination, medical history, and the elimination of other possible causes of symptoms. Electromyography (EMG) and nerve conduction studies can help confirm the presence of motor neuron dysfunction. Additionally, magnetic resonance imaging (MRI) and blood tests may be used to rule out other conditions. 

There is no cure for ALS, and treatment primarily focuses on managing symptoms, slowing disease progression, and improving the patient's quality of life.

 There are currently seven drugs approved by the U.S. Food and Drug Administration (FDA) to treat ALS and its symptoms: Qalsody, RELYVRIO, Radicava, Rilutek, Tiglutik, Exservan, and Nuedexta. Researchers around the world continue to investigate ALS to uncover its underlying causes and develop more effective treatments. Promising areas of research include gene therapy, stem cell therapy, and the study of RNA-binding proteins. Advances in understanding the genetic and molecular mechanisms of ALS have opened new avenues for potential therapies. 

The impact of ALS on patients and their families cannot be overstated. The progressive loss of motor function leads to a loss of independence and the need for extensive caregiving. Families often face emotional, financial, and logistical challenges in providing the necessary care and support for their loved ones with ALS. Support groups and organizations like the ALS Association are crucial in providing assistance, information, and advocacy for patients and families affected by the disease. 

October 2023.