Amyotrophic Lateral Sclerosis – ALS- is a neurodegenerative disease for which there is no effective treatment and no cure. It was first described by a French neurologist, Jean-Martin Charcot, in 1869. This disease is also known as Lou Gehrig’s disease, named for Yankee legend Lou Gehrig whose baseball career ended in 1939 when he was diagnosed with ALS. This event focused national and international attention on the disease. In the United Kingdom the disease is known as Motor Neurone Disease, or MND.
Here’s what happens: There is progressive degeneration of motor nerve cells in both the brain (upper motor neurons) and spinal cord (lower motor neurons). As a result, motor neurons lose the ability to communicate with muscles. When the muscles do not contract they begin to atrophy, or waste away. This results in weakness.
This wasting away is often accompanied by twitching. Eventually the person loses the ability to move their arms, legs, and body. ALS affects voluntary muscles only, so the vital organs continue to function. However, at some point the chest wall muscles will weaken and so will the diaphragm leading to respiratory problems. Respiratory failure is the usual cause of death with ALS.
Some patients experience the first symptoms of ALS in their speech and swallowing. This is known as Bulbar onset. Limb onset begins with weakness in an extremity. (In my case, my right foot began “dropping” resulting in trips and falls.)
Typically, ALS strikes between the ages of 40 and 70, but it can happen at any age. According to the ALS Association, about 5,600 people in the United States are diagnosed each year
ALS does not affect a person’s ability to move their eyes, or to hear, taste, smell, or sense touch. In most cases, the mind is not affected. However there is evidence that a small percentage of ALS cases involve memory problems or perhaps even dementia.
Diagnosis can take quite a while because there simply is no single test for ALS. Many conditions can resemble the early symptoms of ALS. Following a thorough neurological workup, doctors will usually order bloodwork, imaging such as an MRI, electromyography (EMG), nerve conduction velocity studies, a lumbar puncture, and maybe more. Clinical observation over time is sometimes the easiest way to diagnose, though it is anything BUT easy for the patient. The diagnostic process can be very frustrating.
What causes ALS? That’s the big question. In approximately 5 to 10% of cases, there is a genetic link. The patient has a relative with ALS. But the vast majority of cases arise spontaneously. Cause: unknown.
Prognosis? Currently, 50% of patients diagnosed with ALS survive at least three years or more after diagnosis. 20% live five years or more and up to 10% make it at least ten years. The disease’s rate of progression varies from person to person. Some cases progress rapidly and some very slowly. Each case is unique.
Much research is happening. Stem cell and gene therapy studies show promise. Hopefully in the next thirty or forty years we will have an effective treatment or cure. As of this writing (January 2014) there is only one FDA approved drug – Riluzole® -for ALS and its effectiveness is questionable.