Amyotrophic lateral sclerosis (ALS) is a disease that breaks down tissues in the nervous system (a neurodegenerative disease) of unknown cause that affects the nerves responsible for movement. It is also known as motor neuron disease and Lou Gehrig's disease, after the baseball player whose career it ended.
ALS is a disease of the motor neurons, those nerve cells reaching from the brain to the spinal cord (upper motor neurons) and the spinal cord to the peripheral nerves (lower motor neurons) that control muscle movement. In ALS, for unknown reasons, these neurons die, leading to a progressive loss of the ability to move virtually any of the muscles in the body. ALS affects "voluntary" muscles, those controlled by conscious thought, such as the arm, leg, and trunk muscles. ALS, in and of itself, does not affect sensation, thought processes, the heart muscle, or the "smooth" muscle of the digestive system, bladder, and other internal organs. Most people with ALS retain function of their eye muscles as well. However, various forms of ALS may be associated with a loss of intellectual function (dementia) or sensory symptoms.
"Amyotrophic" refers to the loss of muscle bulk, a cardinal sign of ALS. "Lateral" indicates one of the regions of the spinal cord affected, and "sclerosis" describes the hardened tissue that develops in place of healthy nerves. ALS affects approximately 30,000 people in the United States, with about 5,000 new cases each year. It usually begins between the ages of 40 and 70, although younger onset is possible. Men are slightly more likely to develop ALS than women.
ALS progresses rapidly in most cases. It is fatal within three years for 50% of all people affected, and within five years for 80%. Ten percent of people with ALS live beyond eight years.
The symptoms of ALS are caused by the death of motor neurons in the spinal cord and brain. Normally, these neurons convey electrical messages from the brain to the muscles to stimulate movement in the arms, legs, trunk, neck, and head. As motor neurons die, the muscles cannot be moved as effectively, and weakness results. In addition, lack of stimulation leads to muscle wasting, or loss of bulk. Involvement of the upper motor neurons causes spasms and increased tone in the limbs, and abnormal reflexes. Involvement of the lower motor neurons causes muscle wasting and twitching (fasciculations).
Two major forms of ALS are known: familial and sporadic. Familial ALS accounts for about 10% of all ALS cases. As the name suggests, familial ALS is believed to be caused by the inheritance of one or more faulty genes. About 15% of families with this type of ALS have mutations in the gene for SOD-1. SOD-1 gene defects are dominant, meaning only one gene copy is needed to develop the disease. Therefore, a parent with the faulty gene has a 50% chance of passing the gene along to a child.
Sporadic ALS has no known cause. While many environmental toxins have been suggested as causes, to date no research has confirmed any of the candidates investigated, including aluminum and metal dental fillings. As research progresses, it is likely that many cases of sporadic ALS will be shown to have a genetic basis as well.
A third type, called Western Pacific ALS, occurs in Guam and other Pacific islands. This form combines symptoms of both ALS and Parkinson's disease.
The earliest sign of ALS is most often weakness in the arms or legs, usually more pronounced on one side than the other at first. Loss of function is usually more rapid in the legs among people with familial ALS and in the arms among those with sporadic ALS. Leg weakness may first become apparent by an increased frequency of stumbling on uneven pavement, or an unexplained difficulty climbing stairs. Arm weakness may lead to difficulty grasping and holding a cup, for instance, or loss of dexterity in the fingers.
Less often, the earliest sign of ALS is weakness in the bulbar muscles, those muscles in the mouth and throat that control chewing, swallowing, and speaking. A person with bulbar weakness may become hoarse or tired after speaking at length, or speech may become slurred.
In addition to weakness, the other cardinal signs of ALS are muscle wasting and persistent twitching (fasciculation). These are usually seen after weakness becomes obvious. Fasciculation is quite common in people without the disease, and is virtually never the first sign of ALS.
While initial weakness may be limited to one region, ALS almost always progresses rapidly to involve virtually all the voluntary muscle groups in the body. Later symptoms include loss of the ability to walk, to use the arms and hands, to speak clearly or at all, to swallow, and to hold the head up. Weakness of the respiratory muscles makes breathing and coughing difficult, and poor swallowing control increases the likelihood of inhalation of food or saliva (aspiration). Aspiration increases the likelihood of lung infection, which is often the cause of death. With a ventilator and scrupulous bronchial hygiene, a person with ALS may live much longer than the average, although weakness and wasting will continue to erode any remaining functional abilities. Most people with ALS continue to retain function of the extraocular muscles that move the eyes, allowing some communication to take place with simple blinks or through use of a computer-assisted device.
The diagnosis of ALS begins with a complete medical history and physical exam, plus a neurological exam to determine the distribution and extent of weakness. An electrical test of muscle function, called an electromyogram, or EMG, is an important part of the diagnostic process. Various other tests, including blood and urine tests, x rays, and CT scans, may be done to rule out other possible causes of the symptoms, such as tumors of the skull base or high cervical spinal cord, thyroid disease, spinal arthritis, lead poisoning, or severe vitamin deficiency. ALS is rarely misdiagnosed following a careful review of all these factors.
There is no cure for ALS, and no treatment that can significantly alter its course. There are many things which can be done, however, to help maintain quality of life and to retain functional ability even in the face of progressive weakness.
As of early 1998, only one drug had been approved for treatment of ALS. Riluzole (Rilutek) appears to provide on average a three-month increase in life expectancy when taken regularly early in the disease, and shows a significant slowing of the loss of muscle strength. Riluzole acts by decreasing glutamate release from nerve terminals. Experimental trials of nerve growth factor have not demonstrated any benefit. No other drug or vitamin currently available has been shown to have any effect on the course of ALS.
A physical therapist works with the patient and family to implement exercise and stretching programs to maintain strength and range of motion, and to promote general health. Swimming may be a good choice for people with ALS, as it provides a low-impact workout to most muscle groups. One result of chronic inactivity is contracture, or muscle shortening. Contractures limit a person's range of motion, and are often painful. Regular stretching can prevent contracture. Several drugs are available to reduce cramping, a common complaint in ALS.
An occupational therapist can help design solutions to movement and coordination problems, and provide advice on adaptive devices and home modifications.
Speech and swallowing difficulties can be minimized or delayed through training provided by a speech-language pathologist. This specialist can also provide advice on communication aids, including computer-assisted devices and simpler word boards.
Nutritional advice can be provided by a nutritionist. A person with ALS often needs softer foods to prevent jaw exhaustion or choking. Later in the disease, nutrition may be provided by a gastrostomy tube inserted into the stomach.
Mechanical ventilation may be used when breathing becomes too difficult. Modern mechanical ventilators are small and portable, allowing a person with ALS to maintain the maximum level of function and mobility. Ventilation may be administered through a mouth or nose piece, or through a tracheostomy tube. This tube is inserted through a small hole made in the windpipe. In addition to providing direct access to the airway, the tube also decreases aspiration. While many people with rapidly progressing ALS choose not to use ventilators for lengthy periods, they are increasingly used to prolong life for a short time.
The progressive nature of ALS means that most patients will eventually require full-time nursing care. This care is often provided by the spouse or other family member. While the skills involved are not difficult to learn, the physical and emotional burden of care can be overwhelming. Caregivers need to recognize and provide for their own needs as well as those of the patient, to prevent depression, burnout, and bitterness.
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