What is ALS?

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Just what is ALS? Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disease, first described in 1869 by the noted French neurologist Jean-Martin Charcot. Although the cause of ALS is not completely understood, the last decade has brought a wealth of new scientific understanding about the disease that provides hope for the future.

Lou Gehrig first brought national and international attention to the disease in 1939 when he abruptly retired from baseball after being diagnosed with ALS. Most commonly, the disease strikes people between the ages of 40 and 70, and as many as 30,000 Americans have the disease at any given time. ALS has cut short the lives of other such notable and courageous individuals as Hall of Fame pitcher Jim “Catfish” Hunter, Senator Jacob Javits, actors Michael Zaslow and David Niven, creator of Sesame Street Jon Stone, boxing champion Ezzard Charles, NBA Hall of Fame basketball player George Yardley, pro football player Glenn Montgomery, golfer Jeff Julian, golf caddie Bruce Edwards, musician Lead Belly (Huddie Ledbetter), photographer Eddie Adams, entertainer Dennis Day, jazz musicianCharles Mingus, composer Dimitri Shostakovich, former vice president of the United States Henry A. Wallace and United States Army General Maxwell Taylor.

ALS is a neurodegenerative disease that usually attacks both upper and lower motor neurons and causes degeneration throughout the brain and spinal cord. A common first symptom is a painless weakness in a hand, foot, arm or leg, which occurs in more than half of all cases. Other early symptoms include difficulty with speech, swallowing or walking.

The biological mechanisms that cause ALS are only partially understood. The only known cause of ALS is a mutation of a specific gene: the SOD1 gene. This mutation is believed to make a defective protein that is toxic to motor nerve cells. The SOD1 mutation, however, accounts for only one or two percent of ALS cases, or twenty percent of the familial (inherited) cases.

Familial ALS represents between five to ten percent of all cases. The rest arise spontaneously and mysteriously, making seemingly random attacks on previously healthy adults. ALS can strike anyone, anytime.

Physicians have limited choices for treating ALS, and the options that do exist have come into use within the last ten years. Studies suggest that patients’ length of survival and quality of life are enhanced by night-time breathing assistance early in the course of the disease and by aggressive application of alternate feeding options to assure good nutrition once swallowing becomes difficult. At this time, Riluzole® is the only drug that has been approved by the FDA for treatment of ALS. In clinical trials, Riluzole® has shown a slight benefit in modestly increasing survival time.

Stem cell and gene therapy are promising areas of research. In a variety of studies, ALS mouse models are being used to develop treatments that may someday lead to similar human clinical trials. Gene therapy is one field of research where The ALS Association is concentrating on support for more study.

More significant advances of research into ALS has occurred in the last decade than all of the time since Charcot identified the disease. Advances in technology and the genetic revolution are aiding researchers in unlocking the ALS mystery. As more scientists focus on this perplexing disease, the outlook for new understanding brightens each day.

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