Amyotrophic Lateral Sclerosis

Also known as: Lou Gehrig's disease
What is it?
Amyotrophic lateral sclerosis (ALS) is a progressive disease in which the nerve cells that control voluntary muscle movement gradually deteriorate, leading to muscle weakness and eventual paralysis. “Amyotrophic” means the loss of muscle bulk, “lateral” refers to the nerve tracks running down both sides of the spinal cord that are affected, and “sclerosis” refers to the thickening or hardening of the muscle tissue. Also called Lou Gehrig's disease, after the celebrated American baseball player who died of ALS. ALS is also referred to as a motor neuron disease.
Who gets it?
ALS is a rare disease, affecting approximately 30,000 Americans. It is usually diagnosed in people between the ages of 35 and 70. It is slightly more common in men than women.
What causes it?
The cause of ALS is not known. While it can run in families, called familial ALS, it is most often found in people with no family history of the disease, called sporadic ALS. There is a possibility that there is a connection between sporadic ALS and an overproduction of toxic molecular fragments called free radicals in the body, an autoimmune response, viral factors, environmental toxins, or premature aging. However, research has not been conclusive. Western Pacific ALS is a form of the disease that is seen in Guam and other Pacific islands. This form of ALS includes some symptoms of Parkinson's disease.
What are the symptoms?
The symptoms of ALS occur when the motor neurons in the brain and spinal cord begin to degenerate. The motor neurons are nerve cells responsible for sending messages from the brain to the muscles to stimulate movement. As the motor neurons degenerate and die, the muscles become weak and incapable of normal movement, which leads to a loss of muscle bulk, called wasting. The weakness usually begins in the hands, making everyday activities such as fastening buttons and tying a shoe difficult. This weakness then progresses up the arm. Weakness can also begin in the feet and progress up the leg. Weakness in the feet and ankles may first be noticed as frequent stumbling or clumsiness. It leads to a condition called foot drop, in which the feet drag when the patient walks. Over time, the patient experiences muscle cramps, spasms, and tremors. When muscles in the throat are affected, speech becomes slurred or slowed, and the patient may have difficulty swallowing. As the muscles of the diaphragm weaken, a respirator is needed to help with breathing. ALS does not affect mental function, the senses, bowel and bladder function, or the eye muscles. Because ALS progresses until it affects almost all the voluntary muscle groups in the body, patients are eventually able to move only their eyes. ALS is a fatal disease. Because the weakened respiratory and swallowing muscles make it difficult to cough and swallow food, the most likely cause of death is lung infection caused by the inhalation of food or saliva into the lungs, called aspiration.
How is it diagnosed?
ALS is diagnosed by a thorough physical examination and a study of the patient’s medical history and pattern of symptoms. While there is no specific diagnostic test for ALS, the doctor will order tests of the brain and nervous system to rule out other causes. A test called electromyography (EMG) is used to measure the electrical activity in the muscles, which will help determine if the symptoms are caused by an abnormality in the nerves or muscles. The doctor may also order blood and urine tests, computed tomography (CT) scans, magnetic resonance imaging (MRI) scans, and x-rays.
What is the treatment?
There is no cure for ALS. Patients in the beginning stages of the disease should remain as active as possible. Studies have shown that taking a drug called riluzole early in the disease can slow the progression of symptoms slightly. As symptoms progress, treatment involves supporting the patient with physical therapy to prevent muscle shortening (contractures), keep the muscles as strong as possible, and maintain a good range of motion. Drugs are available to reduce muscle cramping. A speech pathologist can help with communication and swallowing difficulties. It is extremely important that ALS patients follow a special diet to prevent choking and aspiration of food. Some patients must be fed through a gastrostomy tube, which is inserted through the abdominal wall into the stomach. Patients who become unable to breathe on their own use a mechanical ventilator. Most ALS patients eventually require full-time nursing care.
Self-care tips
It is difficult to maintain a positive outlook in the face of ALS. For this reason, emotional support is extremely important. If you have been diagnosed with ALS, learn all you can about the disease and decide what type of medical treatment is acceptable to you as the disease progresses. Make sure your healthcare provider, family, and friends are aware of your choices.