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Q: What do theoretical physics and the New York Yankees baseball team have in common?
A: Amyotrophic Lateral Sclerosis... the disease that has confined physicist Stephen Hawking to a wheel chair and voice synthesizer, and which took the life of "The Iron Horse," baseball player Lou Gehrig.
ALS is another neuromuscular disease, and the last in this series of Guide posts. Like Multiple Sclerosis, it is a disease that causes wasting and death of the long neurons leading from brain to muscles, but unlike MS, is confined only to those muscle-control neurons, and does not affect the sensory nerves from body to brain. The gradual degeneration of muscle control leads to the most unfortunate side effect of ALS - a person's perfectly healthy brain locked inside their own body.
The symptoms of ALS usually start out with muscle weakness, as experienced by 1930's baseball star Lou Gehrig. Prior to onset of his disease, he was a powerhouse batter, with a consistent batting average of around .350, over 500 runs-batted-in per year for three years in a row, and records in hits, runs and bases for most of his 17 years and 2,130 consecutive baseball games. In fact, if not for teammate George Herman "Babe" Ruth, Gehrig would have even held home-run records for many of those same years (1923-1939). However, midway through the 1938 season, it was obvious that his strength and stamina were failing. In 1939, as his coordination and strength failed, he went to the Mayo Clinic in Rochester, Minnesota for diagnosis - amyotrophic lateral sclerosis - and received the grim prognosis for increasing paralysis and death within three years. Sure enough, ALS took the life of the self-proclaimed "Luckiest Man on the Face of the Earth" in 1941.
In stark contrast, Stephen Hawking first noticed loss of balance and coordination in his 20's and received the diagnosis of an ALS-like syndrome in 1963 at age 21. The progressive paralysis has confined Hawking to a wheelchair since his mid 20's, and has been unable to move himself since 1974 (age 32). An emergency tracheotomy due to pneumonia took what remained of his voice in 1985, but he has used a speech synthesizer for interaction since before synthesizers became "established" technology. Today he presents prerecorded talks, using the synthesizer, and can even answer questions using facial muscle "twitches" to control a computer, although the process of answering even a single question can take 5-10 minutes. Hawking is still active in theoretical physics, revealing how the sensory and mental facilities remain intact even as the muscle control of the body is lost.
There is currently some dispute whether Hawking's 50+ year survival with ALS means the disease is actually classic amyotrophic lateral sclerosis. Classically, ALS symptoms do not develop in people younger than 50. Gehrig was diagnosed at 35, Hawking at 21. Gehrig exhibited the typical 3-5 year survival, but Hawking has managed to hold on - perhaps by sheer power of will and the support of some of the most technically advanced gadgets (and friends) in the world. As with the other diseases and disorders covered in this series, there is no known cure, the source is unknown, and only about 10% of the cases appear to be genetically linked. Essentially the disease results in atrophy (wasting) of motor neurons and muscles. Loss of the ability to swallow is common in early cases, and even the ability to breathe voluntarily is compromised in advanced cases. Initial treatment is usually with riluzole, which reduces over-activation of neurons by the neurotransmitter glutamate, and may play a role in prevent "excitotoxicity" when injured neurons are over-stimulated. The drug can prolong the early stages of the disease and particularly delay the onset of breathing difficulties requiring artificial ventilation. Other treatments generally focus on controlling muscle spasms and easing swallowing and breathing difficulties.
The sad news of the neuromuscular diseases is that in most cases we don't know how or why they are caused, how they can be treated, or what we can do to ease the quality of life of patients who all-too-often are locked inside their own failing bodies.
Perhaps what we need is for some young scientist - perhaps inspired by science fiction - to discover a cure.