Amyotrophic lateral sclerosis (ALS), better known as Lou Gehrig’s Disease, is a progressive disease of the nervous system. The cause is unknown and there is no cure, although progress is being made on both fronts.
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 do not receive these messages. As a result, 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. This disease does not affect the mind and people with ALS remain fully alert and aware of events. The course of ALS is extremely hard to predict from patient to patient and therefore it is very 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 it 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 may be genetic.
The first signs that you may have the disease are often arm and leg weakness, muscle wasting and faint muscle rippling. These symptoms may occur, because the muscle cells aren’t receiving the signals they need to maintain their growth and strength. This is a result of the motor neurons dying. ALS nerve degeneration may also cause muscle cramps and vague pains, or problems with speech and swallowing. In some cases, the patient may even loose control over emotional responses; they may laugh or cry much more easily than before. Eventually, all voluntary muscle control is lost.
There is not any specific test to diagnose ALS. However, several tests including nerve conduction studies and electromyogram (EMG), are used to measure how efficiently the nerves are working. Information provided by these tests can help a doctor to diagnose ALS, but ruling out other causes of muscular weakness is very important. This is because ALS often mimics other treatable and non-life threatening diseases. People who are suspected of having the disease are referred to neurologists, who specialize in the brain and nervous system. Even then, the diagnosis may take months, since an important part is to confirm the disease progression.
The cause of ALS is truly unknown. It appears to attack victims at random. However new studies show, that 5-10% of people who have it may have developed it genetically. These people show a gene defect that affects an enzyme called superoxide dismutase. 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. The genetic form of ALS is referred to as “Familial ALS”. For most people with ALS, the vast majority of their children are not at any greater risk to develop this disease than the general population. This type of ALS is often called "sporadic ALS" due to its unpredictability.
ALS researchers have found no difference in the effects of either type of ALS and therefore there is hope that when a cure is found, it will treat both kinds.
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 most of the ALS patients, the primary treatment remains to be 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