What is ALS, the Disease Stephen Hawking Defied
When renowned physicist, cosmologist, and author Stephen Hawkins was diagnosed with ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig’s disease, at age 21, the future for the then-Cambridge University student didn’t look promising and his years were numbered. But while reaching age 40 would have been a feat, Hawking has defied ALS and will celebrate his 70th birthday on Sunday, January 8.
What is ALS?
ALS is a progressive neurodegenerative disease that attacks the nerve cells in the spinal cord and brain. The progression of the disease can be explained in this way:
- “Amyotrophic” can be broken down into its Greek derivatives: “A” means no, “myo” refers to muscle, and “trophic” means nourishment. Therefore, ALS is a disease characterized by no muscle nourishment.
- “Lateral” refers to the regions of a patient’s spinal cord where the nerve cells that have an impact on the muscles are located
- “Sclerosis,” or hardening is what happens to the areas of the body as the affected muscles degenerate
ALS typically first strikes people between the ages of 40 and 70, although it can appear earlier, as in the case of Stephen Hawking. Approximately 5,600 people in the United States receive a diagnosis of ALS each year, and life expectancy averages 2 to 5 years from the time of diagnosis. Up to 10% of patients live more than 10 years.
In the early stages of the disease, symptoms may include increasing weakness in the muscles of the arms and legs, and difficulty swallowing, speaking, or breathing. As different regions of the body no longer receive signals from motor neurons, muscles in those areas begin to atrophy.
The areas of the body not affected by the death of neurons are the heart and the digestive system, which are not composed of the same kind of muscle as are voluntary muscles. Therefore, a person with ALS can continue to have a strong heart and digest their food.
If the disease progresses to the point where it affects breathing, patients typically require a ventilator to survive. Hawking has not needed such breathing assistance despite living with the disease for nearly half a century.
ALS: Causes and Prognosis
Experts do not know what causes ALS, but they have some theories. One involves mutations of a specific gene that produces the SOD1 enzyme, which is a potent antioxidant that protects the body against cell-damaging free radicals.
Another theory concerns a chemical messenger called glutamate, which appears in higher levels in people with ALS than in healthy individuals. Studies indicate that neurons begin to die when they are exposed to glutamate for long periods of time.
ALS may be an autoimmune disease, in which the body’s immune system attacks healthy cells. Scientists are also considering other causes, including exposure to toxins, dietary deficiencies, and brain trauma.
The prognosis for ALS is death. As the motor neurons progressively die over time, the brain loses its ability to control muscle movement, and patients typically become totally paralyzed in the later stages of the disease.
There is no cure for ALS, and treatment focuses on symptom management and maintaining independence for as long as possible. A medication called riluzole (Rilutek) may extend survival by a few months, and thus far it is the only drug approved for treatment of ALS.
Stephen Hawking’s battle with ALS
Hawking has been confined to a wheelchair since 1970 and is nearly completely paralyzed. A bout with pneumonia in 1985 left him needing 24-hour care from that time forward, and now he can communicate only by twitching his right cheek and uses a computer and voice synthesizer.
Despite the ravaging effects ALS has had on Hawking’s body, his mind has remained exceedingly sharp. He held a mathematics post at Cambridge University for three decades and is now director of research at the university’s Centre for Theoretical Cosmology. After publication of A Brief History of Time in 1988, which presented a simplified explanation of the universe, he went on to astonish the scientific world with various theories, including those concerning the Big Bang theory and black holes.
According to the ALS Association “ALS is a quite variable disease; no two people will have the same journey or experiences.” Perhaps no one has portrayed this statement any better than Stephen Hawking.
The Association also notes that “there are medically documented cases of people in whom ALS ‘burns out,’ stops progressing or progresses at a very slow rate.” For Hawking, that progression appears to have been exceedingly slow. And if ALS has “burned out” for Hawking, it apparently has not done the same for his mind.
Picture credit: Wikimedia Commons/NASA
Updated June 16. 2016