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ALS (Amyotrophic lateral sclerosis) is a disease of the nervous system that damages a specific type of nerve cell in the brain and spinal cord. In the United States, ALS is often called Lou Gehrig’s Disease, after baseball legend Lou Gehrig, who was diagnosed with ALS in the 1930s. In some other parts of the world, ALS is known as maladie de Charcot, after the French doctor who discovered the disease in 1869, or simply as motor neuron disease, after the type of nerve cells it destroys.
Motor neurons are the nerve cells that send signals from your brain to your muscles so you can move. Whenever you want to move a muscle, your brain uses upper motor neurons to send a message to your spinal cord. Lower motor neurons transmit the same message from your spinal cord to the muscle, and the muscle moves. Every conscious movement you make is controlled by motor neurons.
If you have ALS, the motor neurons weaken and eventually die, so that your brain cannot tell your muscles to move. The muscles may twitch or weaken at first. Over time, the muscles shrink and eventually stop working and become paralyzed.
The heart and the muscles in your digestive system usually aren’t affected. Most people with ALS also keep their bowel and bladder control. ALS also doesn’t affect nerve cells other than motor neurons, so your senses are not affected. ALS can affect some people’s ability to think, but it usually doesn’t. ALS can eventually affect the muscles you use to swallow food, and to breathe.
Each year, ALS strikes one out of every 50,000 Americans, and kills almost the same number. This amounts to roughly 5,600 Americans diagnosed with ALS each year, and about 30,000 with the disease at any given time.
ALS is not contagious, and it can strike anyone, regardless of race, class, or ethnic background.
At present, doctors do not know for sure what causes ALS, although scientists have been making promising discoveries in recent years. Possible causes of ALS that are being studied include:
There are some known risk factors for ALS and others that doctors are still investigating. The known risk factors include:
Other possible risk factors include:
The onset of ALS can be different for different people, and confirming a diagnosis can take months. Your doctor will start by looking at your medical history and your family history. This will be followed by physical exams by your family doctor, a neurologist, or even a team of specialists. During this exam, the doctors will che ck:
To rule out other diseases and confirm ALS, these doctors may perform a number of tests, including:
The start of ALS may be different in different people. Early symptoms may include:
Symptoms often start in your hands or feet and then spread up the legs and arms to other places in your body. Early symptoms can be easy to overlook, so the first symptoms to get your attention may be:
Long-term complications may include:
Sadly, ALS is usually fatal, often within a very short time. The typical life expectancy after being diagnosed with ALS is about 2 to 5 years, but there are exceptions.
More than half of all people with ALS live 3 years or longer. One in five live more than 5 years. This declines to 1 in 10 at 10 years and 1 in 20 at 20 years. But there are some people for whom ALS stops progressing altogether, and a few in whom the symptoms may even reverse. The physicist Stephen Hawking has lived for more than 50 years since he was first diagnosed at age 21.
It’s not easy to accept the reality of a serious illness. Finding out you have ALS can be devastating. But the experts at the Mayo Clinic recommend these steps to help you cope:
Stephen Hawking once said about his ALS, “The prospect of a short life made me want to do more. I realized life was good, and there was a great deal I wanted to do.”
If ALS runs in your family, you can meet with a genetic counselor to discuss the pros and cons of genetic testing for the genes for familial ALS. Not all types of familial ALS will show up on genetic tests, as there are some familial ALS genes that have not yet been identified. Testing works best if there is a living relative with ALS who can be tested first, or if a relative with familial ALS has been tested in the past, so that the lab will know which ALS gene to look for.
Genetic testing is a personal choice. Reasons some people choose to be tested include:
However, it is perfectly reasonable to opt out of testing, as a positive test will not impact your treatment in any way, so testing may just increase feelings of anxiety or guild for some people.
There are no guidelines for ALS prevention, because no one knows for sure what causes ALS. However, some recent research suggests that eating brightly colored vegetables such as carrots, tomatoes, and winter squash may reduce your risk by providing your body with the antioxidants lutein and beta-carotene.
You may also be able to decrease your risk by avoiding suspected risk factors such as smoking and exposure to lead—both of which have many other harmful effects on your health.
There is no cure for ALS, but medical treatment may help slow disease progression and help control symptoms. Physical therapy and other supportive care can also help you stay functional longer and help keep you breathing.
The only medication approved to treat ALS is Rilutek (riluzole), which slows the progression of ALS in some patients by reducing glutamate levels in the brain. Side effects may include dizziness and problems with the liver or the digestive tract.
Other medicines don’t slow the disease but may help with physical and psychological symptoms.
Supportive care for ALS may also incude:
Alternative and complementary treatments, by definition, haven’t been as thoroughly tested as medical treatments. But some complementary treatments may offer benefits when taken in addition to medical treatments.
Several alternative health sources suggest changing your diet to help you cope with ALS, such as:
Other complementary and alternative treatments that have been tried for ALS include:
Be wary of “miracle cures” and expensive treatments without proven results. Always tell your doctor about all treatments you take, including complementary and alternative medicine, as these treatments may have side effects or interact with your other treatments.
Living with ALS can be very stressful. After your diagnosis, it’s important to give yourself and your family time to come to terms with the disease. Emotional support from friends, family, and other people with ALS is also important to coping with the disease.
Eating a healthy diet with lots of fruit and vegetables may also help reduce symptoms. Choose brightly colored vegetables that are rich in vitamins B, C, and E. And you may want to talk to a nutritionist about other ways to get the nutrients you need, especially if ALS makes it hard for you to swallow food.
Physical and occupational therapy can help keep your body functional and help you get around your limitations. Assistive devices can help you breathe better and deal with other limitations.
Take charge of making your own decisions about your health—in consultation with your doctor—and do not let the disease define you. ALS may make it hard to do the things you need to do, but you are still yourself underneath.
ALS usually starts with symptoms such as muscle weakness, clumsiness, cramping, twitching, or trouble speaking. Many other diseases may cause similar symptoms, and if you have these symptoms, they likely are not caused by ALS—but it doesn’t hurt to see the doctor if something feels wrong.
If ALS runs in your family, you may choose to speak with a genetic counselor about whether genetic testing is right for you.
Your doctor can refer you to a neurologist who can help build your care team, or you can find certified centers or ALS clinics through the ALS association.
If familiar ALS runs in your family and you are considering genetic testing, you can ask your doctor for a referral or go to //www.nsgc.org to find a genetic counselor.
When you go to see your doctor, it’s good to have a list of the questions you’d like to have answered. Take a moment to write down some of the things you want to know. Your questions for your doctor might include some of these:
Helpful resources to help you learn more about ALS can be found at:
ALS Association – //www.alsa.org
National Institute of Neurological Disorders and Stroke – //www.ninds.nih.gov/
Muscular Dystrophy Association – //mda.org/disease/amyotrophic-lateral-sclerosis
National Amyotrophic Lateral Sclerosis (ALS) Registry – www.cdc.gov/als/
For families and caregivers
ALS Care – //www.alscare.com/resources.asp
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