Unless you have been living under a glacier recently, you likely have seen, read or heard about someone who has done the ALS Ice Bucket Challenge.  It was a simple request started in New England in July 2014 by Pete Frates, the former captain of the Boston College Eagles baseball team in 2007: dump some ice water on your head or donate $100 to fight amyotrophic lateral sclerosis (ALS).  Pete was diagnosed with ALS in 2012 at the young age of 27, and his “ice bucket challenge” to friends and family was a way to help increase awareness and advocacy.  In the past four weeks, donations to the Amyotrophic Lateral Sclerosis Association (ALSA) connected to the ice bucket challenge have reached almost $89 million, as compared to $2.6 million during the same one-month period last year.

With all this money and social media awareness being raised, one may wonder about the current status of ALS research and treatment.  ALS, also known as Lou Gehrig’s Disease, is named after the famed New York Yankees first baseman who was diagnosed with this disease in 1939 and, after declaring himself the luckiest man on the face of the earth, passed away in 1941 at the age of 38.  It is a progressive motor neuron disease affecting the nerve cells of the spinal cord, brain and brainstem, disrupting skeletal muscle, respiratory muscle and swallowing function.  A small percentage of patients may also develop cognitive decline and dementia.

ALS affects fewer than 200,000 people and, therefore, is considered an “orphan disease” by the pharmaceutical industry.  There is much less financial incentive to invest significant money to find new medications for treatment.  Many hypotheses have been formulated about what causes ALS, including chemical exposure, occupational exposure, military service, infectious agents, nutritional intake, physical activity and trauma.  The prevalence of ALS is 3.9 per 100,000 in the United States; worldwide, the most common demographic group affected is white males over age 60.  The majority of patients who develop the disease have no known risk factors.  The subset of patients who have the familial type of ALS (5-10% of cases) may have a repetition of DNA sequences in a gene called C9ORF72.  Electromyography (EMG) testing is often part of the workup for the disease.  See the MIT Technology Review article.

As with any fatal disease, the looming question often comes back to treatment and a cure.  There is often a focus on symptomatic treatment, such as physical therapy, feeding tube placement, assisted ventilation devices and computer technology for communication when speech and hand motor control are lost.  Riluzole, which decreased motor neuron damage by decreasing glutamate levels, was approved by the FDA in 1995.  Research for future treatments is being done at the National Institute of Neurological Disorders and Stroke, including promising studies looking at pluripotent stem cell research.

Hopefully, once the fascination of dumping ice overhead melts away, the desire to find a cure for ALS continues, and the donations lead to better treatments for all affected.  This blog is dedicated to my father, Hy Glassman, who turns 83 today, and my mother, Hilda Glassman, who valiantly struggled through and ultimately passed away from Lou Gehrig’s Disease in 1997.  A clinical management research award was established in her name by the ALS Association in 1998. 



Stuart J. Glassman, MD

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