Amyotrophic lateral sclerosis, also called ALS or Lou Gehrig’s disease, is a degenerative disease of the brain and spine.
Literally translated from the original Greek, "amyotrophic" means “no muscle nourishment,” according to the ALS Association. The "lateral" in the name refers to the commonly affected part of the spine—which becomes scarred and hardened, or sclerotic. The American nickname comes from New York Yankees Baseball Hall of Famer Lou Gehrig. He was diagnosed in the 1930s, barely 60 years after Jean-Martin Charcot, the father of modern neurology, first wrote about the disease. More recently, the theoretical physicist Stephen Hawking (and roughly 20,000 other American’s) have found their life impacted by the disease. Here’s a look at the causes, risk factors, symptoms, and treatments of ALS.
Symptoms of ALS
The symptoms of ALS begin to develop as the disease progressively destroys motor neurons, slowly resulting in weakness that gives way to paralysis and eventually fatality. Motor neurons are a part of the nervous system, reaching from brain to spine to muscles. ALS specifically affects neurons designed for intentional movement. As the neurons begin to degenerate, they die off, taking much of the patient’s mobility with them.
An individual's inability to control voluntary movements affects everything from walking to swallowing. Initial onset may be very different from patient to patient. Limb-onset ALS begins in the arms or legs, while bulbar-onset ALS begins by a change in the pitch of the voice or the slurring of speech. Bulbar-onset ALS occurs in about a quarter of affected patients. The most common initial signs of ALS, however, include muscle twitches, spasms, or cramping. Essentially, the muscles become weaker and weaker, limiting voluntary movements to more advanced degrees—this includes walking, talking, swallowing, chewing, and even breathing as abdominal muscles are compromised.
Over time, as the disease gradually progresses, this becomes more pronounced. Daily activities, like walking, become difficult; individuals become clumsier—tripping, falling, or dropping things. Other progressive signs of ALS include muscle weakness in the arms and hands or legs and feet, slurring speech, difficulty swallowing, or trouble maintaining an upright posture. In later-stage ALS, patients may become completely paralyzed. Breathing can become difficult and is a leading cause of ALS-related deaths. “Pseudobulbar affect,” a disease characterized by inappropriate laughing or crying, may also accompany the progression of ALS. Dementia occurs in some cases, as well.
Causes of ALS
There are two types of ALS. Exactly what begins the degeneration is still the subject of intensive research for both types. Experts have noted a genetic link in about 5%–10% of patients. This is considered "familial ALS." Sporadic ALS, which accounts for the other 90% of cases, may be caused by high levels of glutamate, a neurological messenger, in the spinal cord. Additionally, scientists are considering that the issue might be an immune system response resulting in self-degradation of the motor cells. Other possible theories include the body's mismanagement of certain proteins, creating an abnormal build up of protein levels, ultimately damaging the motor neurons.
Risk factors that appear to impact an individual’s potential for developing Lou Gehrig’s disease include:
- Genetics
Children of a patient with ALS have about a 50% chance of developing it, too. Additionally, certain variations in your DNA may make the disease more likely. - Age
ALS generally appears between the ages of 40–60, becoming progressively more likely as you age. - Gender
Males are slightly more likely to develop ALS before the age of 65, although after that point the gender difference disappears. - Environmental Factors
Smoking appears to be a contributing factor for women. Additionally, some environmental toxins appear to influence the disease, although studies cannot confirm a single chemical as the problem. Similarly, and for still unknown reasons, the ALS Association reports “military veterans are approximately twice as likely to be diagnosed with the disease.”
Treatment of ALS
There are only two medications currently approved by the Food and Drug Administration for the specific treatment of ALS—riluzole, a glutamate blocker, and edaravone, a central nervous system agent and antioxidant. The issues that accompany the disease, such as muscle cramps or fatigue, may be treated symptomatically. It’s also crucial to receive an array of therapies from a variety of medical professionals to maintain as much quality of life as possible. This might include physical therapy, breathing therapy, speech therapy, nutritional support, or psychological support. Many experts also stress the importance of group therapy and support groups with others affected by ALS.
The average ALS patient lives three to five years with the disease, but it’s also a disease that can vary dramatically. Lou Gehrig died just two years after his diagnosis while Stephen Hawking is still alive more than 50 years after his. There is simply still too much unknown about the disease.