Amyotrophic Lateral Sclerosis

What is ALS?

Amyotrophic lateral sclerosis (ALS) is a progressive disease of the nervous system. The cause is not known and there is no cure, although progress is being made on both fronts. ALS is also known as Lou Gehrig's disease after the famous baseball player who died from it.

ALS attacks motor neurons, which are among the largest of all nerve cells in the brain and spinal cord. These cells send messages to muscles throughout the body. In ALS, motor neurons die and the muscles weaken as they lose their ability to move. Eventually, most muscle action is affected, including those which control swallowing and breathing, as well as major muscles in the arms, legs, back and neck. There is, however, no loss of sensory nerves, so people with ALS retain their sense of feeling, sight hearing, smell and taste. The mind is not affected by this disease and people with ALS remain fully alert and aware of events. The course of ALS is extremely variable and it is difficult to predict the rate of progression in any single patient. For the majority of people with ALS, weakness tends to progress over a three-to-five year period.

ALS can strike anyone, at any age, but generally ALS occurs between the ages of 40 and 70. According to the National Institutes of Health, some 4,600 people in the United States are newly diagnosed with ALS each year. About 4 to 6 people per 100,000 worldwide get ALS. In a small percentage of patients, ALS is genetic.

What Are the Symptoms?

The first signs of ALS are often arm and leg weakness, muscle wasting and faint muscle rippling. These symptoms occur because muscles are no longer receiving the nutrient signals they need for growth and maintenance- a result of motor neurons dying. ALS nerve degeneration may also cause muscle cramps and vague pains, or problems with speech and swallowing. Some people with the disease may lose some control over their emotional responses. They may laugh or cry much more easily than in the past. Eventually, all voluntary muscle action is affected.

 

How is ALS Diagnosed?

There is no specific test for diagnosing ALS. However, several tests- including nerve conduction studies and elctromyagram (EMG)- are used to measure how well and quickly the nerves are working. Ruling out other causes of muscular weakness is important because ALS often mimics other treatable diseases. Diagnosis requires special skills and neurologic tests. People with ALS symptoms usually are referred to neurologists, who specialize in the nervous system. Diagnosis may take several months since an important part of the diagnostic process is to confirm disease progression.

What Causes ALS?

The cause of ALS is unknown. It attacks its victims at random. However, it was recently discovered that five to ten percent of those with ALS show a definite genetic pattern. In this rare form, about one-half of the offspring may develop ALS. These people show a gene defect that affects an enzyme called superoxide dismutate. This enzyme eliminates toxic substances called free radicals. Free radicals can cause nerve cells to die and are associated with a number of diseases and even implicated in aging itself. For most people with ALS, the vast majority of their children are not at any greater risk of developing this disease than the general population. This type of ALS is often called "sporadic ALS" due to its unpredictable nature.

ALS researchers have found no difference between the symptoms and disease progression in the sporadic and genetic forms of ALS. Therefore, since the genetic and acquired forms of ALS appear to be similar, an understanding of the cause of the genetic form could lead to treatment for all forms of the disease.

Treatment

While there is no cure for ALS, research to solve the ALS puzzle is ongoing. Scientific advances have led to approval of the first treatment for the disease- a medication that may increase survival time. Other treatments under investigation include several nerve growth factors which may help maintain quality of life by maintaining nerve function. While each of these therapies represent a step forward for people with ALS, a cure remains to be discovered.

For the majority of people with ALS, the primary treatment remains the management of ALS symptoms. Patients need to take an active role in the design of their treatment regimen. Ideally, ALS management involves physical, occupational, speech, respiratory and nutrition therapy. For instance, certain drugs and the application of heat or whirlpool therapy may help to relieve muscle cramping. Exercise, however, is recommended in moderation. Drugs also may be used to help combat fatigue, but in some patients may worsen muscle cramps.

As the disease progresses, various assistive devises will help persons with ALS maintain their independence and endure personal safety. For example, an ankle/foot brace can improve function and conserve energy, as well as help avoid injury. When neck, trunk and shoulder weakness makes walking or sitting difficult, cervical collars, perhaps with an additional chest and head strap, provide helpful support. A reclining Chair is preferable to a headrest to relieve fatigue of neck muscles. There are also numerous devises to assist in feeding, dressing and maintaining personal hygiene. Eventually, more substantial equipment, such as wheelchairs, scooters, lifts and hospital beds may be required.

It is important to know that speech therapists can help with speech and swallowing difficulties as they develop. Also, drug treatments can help patients who develop excessive saliva and drooling. Family members of people with ALS should be instructed in the Heimlich maneuver to provide assistance in a life-threatening choking episode. Feeding tubes may be necessary to maintain nutrition, as may breathing devises when the disease affects the muscles of the chest. However, with these supportive devices, there are physical, emotional and financial implications, and their use should be discussed with a physician well in advance of when the need arises. Managing the symptoms is a process that is challenging for people with ALS, their caregivers, and their medical team.

Of all the disabilities that affect a person with ALS, one of the most devastating and most common is the progressive loss of the ability to communicate. However, advances in computer technology mean that persons with ALS today have vital new electronic communications options that can be adapted to their individual capabilities.

Progress Through Research

Significant progress is being made in the study of ALS. Although there is still no cure, recent clinical trails have shown that some drugs affect cell activity and may increase the survival time for people with ALS. Newly developed animal models of the genetic form of the disease, so-called transgenic ALS mice, offer neurologic researchers the ability to test therapies in mice. There is great hope that this and other neuroscientific advances will lead to a cure in humans. Talk with your doctor about being involved in future clinical trails or about the drugs currently available for the treatment of this disease.

Information provided by the American Academy of Neurology, The Brain Matters campaign.

 
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