Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, causes a slow degeneration (breakdown) of nerve cells of the spinal cord and brain as well as the brainstem, the bottom portion of the brain near the spinal cord. This degeneration affects only nerve cells that control muscle movements (motor neurons), causing the person to gradually lose the ability to control his or her muscles.

Although the cause of ALS remains unknown, current theories suggest that certain chemicals, including one that transmits signals between nerve cells, may play some role in the death of motor nerve cells. ALS generally strikes patients between the ages of 50 and 70, and affects men slightly more often than women. About 5% to 10% of cases appear to be inherited.

Symptoms

ALS is characterized by muscle weakness and wasting (atrophy) in the arms and legs, torso, breathing muscles, throat, and tongue. Weakness usually begins in the arms and legs and continues to get worse slowly over time. Other symptoms include:

• Muscle twitching, cramps, stiffness, and muscles that tire easily
• Slowed speech that becomes progressively harder to understand
• Difficulty breathing and swallowing; choking
• Weight loss (because of both muscle breakdown and poor nutrition caused by problems swallowing)
• Sudden involuntary bursts of laughter or crying
• Changes in the way the person walks, and eventually, the loss of the ability to walk.

Diagnosis

Your doctor will ask about your medical history and will give you a physical exam. He or she will perform a neurological examination to look for the following signs: loss of muscle bulk in one particular location (focal muscle wasting), muscle twitching, and muscle weakness in your arms and legs. Other symptoms your doctor will look for include spasticity, where the arms or legs resist being moved by someone else, abnormal tendon reflexes, facial weakness, slurred speech, and breathing problems that severely limit normal air exchange in the lungs. An additional indication of ALS is that the toe moves upward when the sole of the foot is stroked (known as the Babinski sign).

The physician will check to see whether sensation, eye movement, and higher thought processes, such as perception, reasoning, judgment and imagination, have been affected, because they often remain intact in people with ALS.

Your doctor will diagnose ALS based on this examination, and by excluding other causes of your symptoms. To confirm the diagnosis, your doctor also may order other tests such as blood tests, magnetic resonance imaging (MRI) scans, or electromyography (EMG), which tests the health of the muscles and nerves.

People with ALS generally live an average of three to five years after symptoms begin. Most die from an inability to breathe or from lung infections that tend to occur when breathing is impaired for long periods of time.

Treatment and prevention

There is no way to prevent or cure ALS. Riluzole (Rilutek) is the only drug approved in the United States for treating ALS, and it has been able to prolong survival in some people. Other treatments under study include a variety of growth factors (naturally occurring proteins) that might stimulate nerve recovery, antibiotics, and medicines that alter the immune system. So far, however, results have been disappointing. Animal studies have raised hopes about other therapies that might improve nerve and muscle function in people with ALS. These therapies include creatine, vitamin E, and celecoxib, but clinical trials have found little or no evidence of effectiveness in humans. The use of stem cells to replace failing cells in the body offers new hope, but definitive trials have not yet been reported. Many active clinical trials offer patients the chance to participate in the development of new therapies.

To help manage the symptoms of ALS, mechanical devices, such as dressing aids and special utensils for eating, are available to make self-care easier. A cane or walker also may be helpful. Patients should consider the option of using a mechanical respirator if they become unable to breathe on their own. Although artificial ventilation can help some patients survive for years, many people choose not to be kept alive in a state of total paralysis, unable to communicate except with eye movements. Patients with ALS should discuss this issue with their doctors early in the illness, so that the important and difficult decisions about emergency resuscitation can be made according to the patient’s wishes in the event of life-threatening breathing problems.

Emotional support is crucial. Although much of this support can be provided by the patient’s friends and family, a qualified counselor or psychotherapist also can be a valuable asset.

When To Call A Professional

See your doctor as soon as possible whenever you develop unexplained muscle weakness or difficulty controlling your movements. This is especially important if speaking, breathing, or swallowing seem to be affected.

ALS eventually leads to death, as muscles governing breathing, swallowing, and other crucial body functions are affected. However, active research continues into the causes and treatment of ALS, so ALS patients and their families should be hopeful as they look into the future.