The following Frequently Asked Questions and Answers are from the ALS Association's web site and used with permission.
What is Amyotrophic Lateral Sclerosis (ALS)?
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Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually lead to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment---"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.
As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue atrophies.
Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific understanding regarding the physiology of this disease.
While there is not a cure or treatment today that halts or reverses ALS, there is one FDA approved drug, Rilutek®, that modestly slows the progression of ALS as well as several other drugs in clinical trials that hold promise.
Importantly, there are significant devise and therapies that can manage the symptoms of ALS that help people maintain as much independence as possible and prolong survival. It is important to remember that ALS is a quite variable disease; no two people will have the same journey or experiences. There are medically documented cases of people in whom ALS ‘burns out,’ stops progressing or progresses at a very slow rate.
What are the inital symptoms of ALS?
At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms and the progression of the illness, the course of the disease may include the following:
The initial symptoms of ALS can be quite varied in different people. One person may experience tripping over carpet edges, another person may have trouble lifting and a third person's early symptom may be slurred speech. The rate at which ALS progresses can be quite variable from one person to another. Although the mean survival time with ALS is three to five years, many people live five, ten or more years. In a small number of people, ALS is known to remit or halt its progression, though there is no scientific understanding as to how and why this happens. Symptoms can begin in the muscles of speech, swallowing or in the hands, arms, legs or feet. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. But, progressive muscle weakness and paralysis are universally experienced.
Muscle weakness is a hallmark initial sign in ALS, occurring in approximately 60% of patients. Early symptoms vary with each individual, but usually include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches and/or uncontrollable periods of laughing or crying.
The hands and feet may be affected first, causing difficulty in lifting, walking or using the hands for the activities of daily living such as dressing, washing and buttoning clothes.
As the weakening and paralysis continue to spread to the muscles of the trunk of the body the disease, eventually affects speech, swallowing, chewing and breathing. When the breathing muscles become affected, ultimately, the patient will need permanent ventilatory support in order to survive.
Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected.
Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time. According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian.
Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, cases of the disease do occur in persons in their twenties and thirties. Generally though, ALS occurs in greater percentages as men and women grow older. ALS is 20% more common in men than in women. However with increasing age, the incidence of ALS is more equal between men and women.
There are several research studies – past and present – investigating possible risk factors that may be associate with ALS. More work is needed to conclusively determine what genetics and/or environment factors contribute to developing ALS.
Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than ten years.
There is some evidence that people with ALS are living longer, at least partially due to clinical management interventions, riluzole (Rilutek®) and possibly other compounds and drugs under investigation.
Three classifications of ALS have been described:
The most common form of ALS in the United States is "sporadic" ALS. It may affect anyone, anywhere. "Familial" ALS (FALS) means the disease is inherited. Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.
ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive diagnostic workup includes most, if not all, of the following procedures:
These tests are done at the discretion of the physician, usually based on the results of other diagnostic tests and the physical examination. There are several diseases that have some of the same symptoms as ALS and most of these conditions are treatable. It is for this reason that The ALS Association recommends that a person diagnosed with ALS seek a second opinion from an ALS "expert" - someone who diagnoses and treats many ALS patients and has training in this medial specialty.
Present treatment of ALS includes one drug, riluzole (Rilutek©) and is aimed at symptomatic relief, prevention of complications and maintenance of maximum optimal function and optimal quality of life. Most of this, in the later stages, requires substantial physical caregiving. Click here for more information on Rilutek.
Symptomatic Treatment of ALS
A presentation prepared for healthcare professionals, people living with ALS
and their families, focusing on symptom management and what can be done to help
people living with ALS be more independent, live longer and have a good quality
of life. Click here
to view this presentation.
As ALS progresses what decisions
might I face?
As ALS progresses, you may face decisions about how to treat complications,
such as difficulty eating, swallowing, breathing or lung infections caused by
these problems. The choice you make has to be right for you and may be different
from the choice another PALS might make.
As the muscles that control swallowing become weaker, inhaling food and saliva can become a problem. Getting enough food or taking medicines may be difficult. A nutritionist may recommend certain types of food supplements that are easier to take, or medication to reduce the amount of saliva may be prescribed. If these approaches fail to help, some may choose to have a tube surgically inserted through the skin into the stomach to improve nutrition and help with medicines. This is also called percutaneous endoscopic gastrostomy, or PEG.
In some people with ALS, the muscles that control breathing may become weak. Initially, extra oxygen can be given through a flexible plastic tube that is placed in the nostrils (a nasal cannula). For mild breathing problems, machines that deliver air or extra oxygen through a mask may be used. These machines are called bi-level positive airway pressure (BiPAP), or noninvasive positive pressure ventilation (NPPV) machines. Other breathing options may be available to you and should be discussed with physicians trained in treating patients with ALS.
Some patients may not have a problem with swallowing or breathing, but may notice their muscles becoming weaker over time. It may be difficult to get around without support, or do the things you were used to doing before ALS was diagnosed. Physical and occupational therapy and a wide range of support devices can help you keep your independence.
At the Maryland ALS Clinic, you will have an opportunity to discuss your ALS needs with a highly trained group of professional caregivers.