What is ALS?
ALS, or Amyotrophic Lateral Sclerosis, also known as “Lou Gehrig’s disease,” is a progressive and fatal illness that affects the motor neurons in the brain and spinal cord. This, in turn, affects motor control of voluntary muscle movements such as hand, foot or head gestures. Over time, these motor neurons die, leaving the affected muscle atrophied. The result is paralysis of that particular body part.
ALS is one of the most common neuromuscular diseases in the world. It knows no socioeconomic, ethnic or racial boundaries. It can strike anyone at any time, although 60 percent of patients are men. Ninety-three percent are of Caucasian descent, and the disease mostly appears in people between the ages of 40 and 70 years of age. Less common are cases that involve 20- and 30-year olds. There are also reports that military veterans, especially those who served in the Gulf War, are two times more likely to be diagnosed with ALS than their civilian counterparts.
Possible Causes
Though researchers aren’t exactly sure what causes ALS, 5 to 10 percent of all cases can be traced through a family’s lineage – including genetic ties and the possible transference of a gene mutation. This type of ALS is called “familial ALS” or FALS. One thing researchers know about FALS is that symptoms and other markers are nearly identical to ALS.
The other 90 to 95 percent of ALS cases are considered “sporadic ALS” or SALS. This is defined as ALS that affects just about anyone, anywhere. The cause of SALS is not known, but some theorize a mix of environmental and genetic factors may be to blame.
Genetic mutations are linked to FALS and another type of gene variation that causes free radicals -- a normal part of cell metabolism -- to attack DNA and proteins within cells randomly.
Chemical imbalances are also found in some ALS patients. Higher-than-normal levels of a chemical messenger in the brain called glutamate were found in spinal fluid. It has been determined that an excess of glutamate can be toxic to some types of nerve cells. Another symptom is called the “mishandling of proteins,” This means that abnormal forms of proteins inside nerve cells may be responsible for the cell’s death, hence, non-communication between brain and muscles.
Scientists are examining the possibility that immune cells are attacking nerve cells, which leads to the death of these particular cells. The cause of this immune cell response is unknown.
Environmental factors are also thought to contribute to an increased risk of ALS. Smoking increases a person’s risk by two times more than nonsmokers. And the risk keeps increasing the longer you smoke. The good news is that risk decreases when you quit smoking. Some data suggest that exposure to lead may increase ALS risk. And Gulf War vets who may have been exposed to a combination of certain chemicals and heavy metals, traumatic injuries, viral infections, and long periods of intense exertion may be at risk.
What are the symptoms of ALS?
Muscle weakness affects 60 percent of ALS patients, so the first, early signs of this illness are: dropping things and clumsiness because of hand weakness; tripping and falling; difficulty swallowing or breathing; slurred speech; abnormal fatigue of arms, legs and head; muscle cramps; twitching in arms, shoulders and tongue, and uncontrollable laughing or crying.
As the disease progresses, everyday tasks, like walking or buttoning a shirt, become more difficult. Chewing, swallowing, speech and breathing also become harder. Though less common, malnutrition and dehydration could develop because of the discomfort of eating. Aspirating food, liquids and saliva also may set up ideal conditions for pneumonia in the patient. Care must be taken that these signs are acted upon.
Difficulty of Diagnosis
There is no one test or procedure that definitively confirms an ALS diagnosis. Therefore, diagnosis is both lengthy and time-consuming. Symptoms can be attributed to the initial signs of ALS or may indicate another neuromuscular disease, so confirming a diagnosis of this illness often requires a battery of neurological tests and scans. Most of those diseases that mimic the signs of ALS are treatable, so it is important that the correct diagnosis is made.
Treatment
As mentioned earlier, there is no cure or reversal of symptoms for ALS patients. Treatment consists of focusing on the slowing of symptoms for the comfort of the patient. At this point, it may be helpful to have a team of doctors who are trained in various aspects of the complex physical, mental and societal issues revolving around ALS.
Physical therapy is paramount for cardiovascular health, muscle strength and range of motion. Regular exercise and stretching can prevent pain and keep muscles functioning longer. Speech therapy, occupational therapy, nutritional, psychological and social support is typically prescribed for the ALS patient.
Some Strategies for Those with ALS
Upon an ALS diagnosis, you’ll probably experience a “down” time when you feel depressed and sad. This is the time for you and your family to grieve, and it's quite normal when given significantly bad news. Join a support group and make decisions about your future care. And most of all, remain hopeful. As famous Yankee first baseman, Lou Gehrig, said upon his retirement from baseball because of ALS, “I might have been given a bad break, but I’ve got an awful lot to live for.” Consider that ALS is a part of your life -- but not your entire life. That’s the message Gehrig courageously carried throughout his illness.