What is ALS?

Amyotrophic lateral sclerosis (ALS) is also referred to as "Lou Gehrig's disease."
It is a very rapidly progressing neurodegenerative disease that affects nerve cells. In simpler terms, this disease causes motor neurons (nerve cells in our body that help us move our muscles) to deteriorate and die. As motor neurons in the body degenerate, the person slowly loses control and function of their muscles, and eventually could become completely paralyzed.

Symptoms that an ALS patient may experience include muscle weakness (as their motor neurons die off), difficulty swallowing, difficulty breathing and difficulty talking. These last three symptoms are due to loss of control of muscles used in breathing (muscles in the chest and diaphragm) and also loss of control of muscles used in swallowing (walls of the pharynx, esophagus). As the disease progresses, the patient is forced to get nutrition through a feeding tube and use ventilation to help them breathe. Loss of control over skeletal muscles causes the fibers to "atrophy" or waste away, and those eventually degenerate also.

ALS is one of the most common neuromuscular diseases worldwide. Within a population of 100,000 people, there are 2 new ALS cases each year. ALS is more common in men than women, white people than black people, and can also be inherited. Being diagnosed with ALS is rare before the age of 40, but it does happen. Most people with the disease live an average of 2-5 years after their first signs of disease and only about 10% of people with ALS survive for 10 years or more.

This disease is fatal, there is no cure and no way to prevent it. Riluzole is the only FDA approved drug available to treat ALS. It slows the progression of ALS, and can only extend survival about 2-3 months.

The cause of ALS is still unknown, but there are a few theories. In the past few decades scientists have discovered that mutations in the gene that produces the SOD1 enzyme were linked with some cases of familial ALS, although it is unclear how the mutations could lead to motor neuron degeneration. Other studies look into environmental factors (exposure to toxins, physical trauma, etc.).  Recently, researchers have started focusing on RNA processing after finding that many genetic risk factors for ALS are involved in this pathway. Although the cause of ALS is still not clear, many researchers seem to agree that the development of the disease could be contributed by a number of processes.

I know you were probably expecting an "Ice Bucket Challenge" video somewhere on this post, as that has been a recent trend on social media sites. Below is my favorite "Ice Bucket Challenge" video, and in my opinion, the only one that really meant something. Fast forward to 2:00 to gain real insight into ALS.

Sources:
 Association, A. (2014). Epidemiology of ALS and Suspected Clusters. Retrieved from ALS Association: http://www.alsa.org/als-care/resources/publications-videos/factsheets/epidemiology.html