Q: How typical was Stephen Hawking’s battle with ALS?
A: Amyotrophic lateral sclerosis (ALS) is also known as Lou Gehrig’s disease (after the famous baseball player who died from the disease in 1941). Poorly understood, but thankfully rare (affecting about 50 per million people in the United States), ALS is a devastating neurological disease. About 10 percent of the cases of ALS are familial (inherited in an autosomal dominant way) with the rest of the cases being sporadic occurrences (they randomly occur).
ALS usually strikes people in their 30’s through 60’s, although it can occur in people at essentially any age. ALS affects the upper (in the brain) and lower (in the spinal cord) motor neurons (the nerves that control the many muscles in the body). There are many other degenerative motor neuron diseases, but the specific diagnosis of ALS is suspected based on the patient’s history and physical exam (there are clinical scoring systems that have been developed to help aid in the diagnosis), and is confirmed by specialized tests such as an EMG (electromyography, a study of the electrical activity in the muscles) and nerve conduction studies after other possible causes (such as Lyme disease, monoclonal gammopathy syndrome and other degenerative motor neuron diseases) have been ruled out or deemed unlikely.
In about three quarters of ALS patients symptoms begin with insidious asymmetric weakness in the limbs (often the hands or feet, subsequently moving up the affected arm or leg). A minority of ALS patients have symptoms begin with the bulbar muscles (those in the mouth and throat), or rarely other muscle groups.
Fasciculations (twitching-like movements) and atrophy (a wasting away of the strength and size) of the tongue are common. The tongue weakness can cause the patient’s speech to sound ‘thick’, and the patient’s family sometimes report slurring of words or choking episodes. Fasciculations in other muscles (the thigh is a common place) also occur. ALS may eventually affect other nerves, causing sensory or other symptoms.
It is reported that Lou Gehrig’s first symptoms included weakness that affected his sports performance in subtle ways. His hitting suffered due to arm weakness and he reportedly started wearing sneakers instead of cleats to play golf as it became hard for him to lift his toes up while walking (foot drop).
ALS is a progressive disease, and the muscle weakness typically worsens (both in severity and in the number of muscles affected) over months to years. Because of this, ALS often leads to death over a period of 5 to 10 years as the progressive muscle weakness eventually includes the breathing muscles, although patients afflicted at younger ages have been known to survive for longer than this.
The brilliant physicist Dr. Stephen Hawking was born in 1942 and was diagnosed with ALS at age 21. He lived essentially his entire adult life with the devastating physical effects of ALS, finally succumbing to the disease at age 76. Although not unique, his living with ALS for almost 55 years is certainly not typical.
Although ALS can affect cognition in some people, Dr. Hawking was living proof that the mind, intelligence and creativity of most ALS patients are intact; Dr. Hawking was surely one of the most brilliant minds ever to have lived, and he was able to make important scientific contributions throughout his life. On a personal note, the ‘Ph.D.’ letters behind my name are from my doctorate in theoretical physics from Yale. Although my father’s cancer eventually caused me to change fields (and my own research efforts) to medicine, it was my distinct honor to have studied some of Dr. Hawking’s work during my physics days, and even to have met him. His incredible mind, sense of humor, and his indomitable spirit in the daily fight he waged against this unrelenting physical malady, should be an inspiration to us all.
The cause of ALS is not understood, although some progress has been made in the study of this disease. Treatment of ALS is supportive, addressing the patient’s nutritional needs, respiration, and their other activities of daily living, as well as avoiding complications such as pressure sores, etc. This is best accomplished by a multidisciplinary team of clinicians, including neurologists, nutritionists, physical/occupational therapists, speech therapists, respiratory therapists, nurses, psychologists/social workers and other skilled clinicians. The medication Riluzole was approved in 1995 to help slow the progression of ALS symptoms. Although no cure for ALS has yet been identified, there is ongoing research trying to develop one.
Jeff Hersh, Ph.D., M.D., can be reached at DrHersh@juno.com