CONDITIONS

Lou Gehrig’s disease / ALS

What Is Lou Gehrig’s disease / ALS

Amyotrophic lateral sclerosis (ALS) 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 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.

What Causes Lou Gehrig’s disease / ALS

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:

  • Gene mutation. One out of every 10 to 20 people with ALS have inherited it from a relative. Genes may be involved in the non-inherited variety as well.
  • Chemical imbalance. Most people with ALS have large amounts of a substance called glutamate, which is an excitatory neurotransmitter, in their spinal fluid. Your brain uses glutamate to send messages through your nerves, but too much glutamate can damage some nerve cells.
  • Autoimmune disorder. Sometimes a person’s immune system can attack the person’s own body cells. This causes diseases like psoriasis, rheumatoid arthritis, lupus, and type 1 diabetes. Some doctors think that ALS starts with the immune system mistaking motor neuron cells for a threat.
  • Protein mishandling. A protein known as Ubiquitin-2 is supposed to fix or get rid of damaged proteins in your nervous system, but Ubiquitin-2 may not work properly in people with ALS, so that damaged proteins build up in motor neurons and block the signals that these neurons should deliver.

Risk Factors For Lou Gehrig’s disease / ALS

There are some known risk factors for ALS and others that doctors are still investigating. The known risk factors include:

Your family.

  • If one of your parents inherited familial ALS, then there’s a 50-50 chance you will too. But this is only for familial ALS, which runs in families and accounts for about 1 in 10 people with ALS.
  • If only one person in your family has ALS, then he or she probably has sporadic ALS and is unlikely to pass it on. Researchers are looking into the possibility that there may be a gene that increases your risk of sporadic ALS as well, but most of the time sporadic ALS affects only one member of a family.

Your age. ALS usually strikes between the ages of 40 and 60

Your gender. Men are slightly more likely than women to develop ALS, up to age 65 or so. After age 70, there is no difference.

Other possible risk factors include:

  • Smoking
  • Exposure to lead
  • Military service

Diagnosing Lou Gehrig’s disease / ALS

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 check:

  • Your reflexes
  • Your muscle strength and tone
  • Your coordination and balance
  • Your vision
  • Your sense of touch

To rule out other diseases and confirm ALS, these doctors may perform a number of tests, including:

  • An electromyogram, which involves inserting an electrode into your muscles to see how well they work
  • A nerve conduction study to determine whether your nerves are sending messages the way they should
  • Magnetic resonance imaging (MRI) to check for other problems in your brain and spinal cord
  • A nerve or muscle biopsy
  • Lab tests on our blood, urine, or spinal fluid

Symptoms of Lou Gehrig’s disease / ALS

The start of ALS may be different in different people. Early symptoms may include:

  • Muscle weakness in the arms, legs, feet, or hands
  • Tripping or difficulty walking
  • Muscle cramps

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:

  • Slurred speech
  • Trouble swallowing
  • Problems with posture, such as having a hard time holding your head up.

Long-term complications may include:

  • Trouble speaking. This can start as mild or occasional slurring of words, but may progress until your speech becomes hard to understand and you need other ways to communicate.
  • Eating problems. Losing control of the muscles you need to swallow may make you dependent on a feeding tube or lead to

o   Malnutrition

o   Dehydration

o   Pneumonia caused by food in the lungs

  • Difficulty breathing. Failure to breathe is the most common cause of death in people with ALS. As the disease progresses, you may need devices or even surgery to help you breathe.
  • Dementia. In most people with ALS, the mind is not affected, but some have memory problems, trouble making decisions, or a condition called frontotemporal dementia.

Prognosis

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.

Living With Lou Gehrig’s disease / ALS

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:

  • Take the time to grieve. You and your family will need time to come to terms with ALS.
  • Be hopeful. Keeping your hopes up can improve the quality of your life.
  • Think beyond the changes. Don’t let ALS define you. You are more than the disease.
  • Join a support group. Talking to other people with ALS and their families can be a source of strength for you and your loved ones.
  • Make plans. Take charge of your treatment by making decisions about the care you want, and how you want to live out the years you have left.

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.”

Screening

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:

  • To guide family planning decisions
  • To help with other life decisions and long-term plans
  • To prepare yourself and your loved ones if you have the gene
  • To put your mind at ease

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.

Prevention

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.

Medication And Treatment

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 include:

  • Breathing care and devices to help you breathe
  • Physical therapy to keep your body functioning longer
  • Occupational therapy to help you find ways around your physical limitations
  • Speech therapy to help you  communicate if ALS makes it hard for you to talk
  • Nutritional therapy to help you get the right nutrients, especially after ALS makes it difficult for you to swallow food
  • Psychotherapy or counseling to help you and your loved ones deal with the emotional burden of ALS
  • Social work to make sure you’re getting the services you need

Complementary and Alternative Treatment

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:

  • Eating more vegetables, especially brightly colored vegetables
  • Eliminating junk food
  • Cutting back on dairy, meat, and/or grains
  • A high-fat, low-carbohydrate “ketogenic” diet with lots of coconut oil
  • Getting more calcium, magnesium, or vitamins B, C, or E, either from food or supplements
  • Creatinine and other herbal treatments
  • Ayurvedic medicine

Other complementary and alternative treatments that have been tried for ALS include:

  • Acupuncture
  • Chiropractic
  • Massage
  • Yoga

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.

When To Contact A Doctor

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, it is prudent to seek a medical opinion.

If ALS runs in your family, you may choose to speak with a genetic counselor about whether genetic testing is right for you. 

Questions For A Doctor

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:

  •  What type of ALS do I have?
  • What symptoms should I expect?
  • What treatments do you recommend? Why?
  • What are the side effects?
  • What are the other treatment options?
  • Can I enroll in a clinical trial?
  • Do you recommend changes to what I eat or how I exercise?
  • Is there anything else I should know about ALS?