What Is ALS?
ALS is a disease that causes motor neurons, the nerve cells that send messages from your brain to your spinal cord and then to your muscles, to break down and die. These motor neurons control all your voluntary movements, allowing you to do things like walk, chew and swallow food, and even breathe.
There are two main types of these nerve cells. Upper motor neurons are located in the brain. They send signals down the spinal cord to the lower motor neurons, which stimulate the muscles to move.
With ALS, your brain can't send messages to your muscles anymore. Because the muscles don't get any signals, they become very weak and waste away. This is called atrophy. ALS is a progressive disease, which means it gets worse over time. As your muscles atrophy, it gets harder for you to walk, talk, eat, and breathe.
There are two types of ALS:
Sporadic ALS is the most common form. It affects up to 95% of people with the disease. Sporadic means it happens sometimes without a clear cause.
Familial ALS (FALS) runs in families. About 5% to 10% of people with ALS have this type. FALS is caused by changes to a gene. Parents pass the faulty gene to their children. If one parent has the gene for ALS, each of their children will have a 50% chance of getting the gene and having the disease.
What Causes ALS?
Researchers still don't know exactly what causes ALS. Gene changes, or mutations, are behind 5% to 10% of cases. More than 12 different mutations have been linked to the disease.
One mutation is to a gene that makes a protein called SOD1. This protein may be toxic to motor neurons. Other gene changes in ALS might also damage motor neurons.
Your environment could also play a role in ALS. Scientists are studying whether people who come into contact with certain chemicals or germs are more likely to get the disease.
Scientists are also looking at these other possible causes:
Glutamate. This chemical is a type of neurotransmitter – it sends signals to and from the brain and nerves. With ALS, glutamate builds up in the spaces around nerve cells and may damage them.
The medication riluzole (Rilutek) works by lowering glutamate levels and can help make the disease progress more slowly.
Immune system problems. Your immune system protects your body from foreign invaders such as bacteria and viruses. Microglia are the main type of immune cell in your brain. They destroy germs and damaged cells. With ALS, microglia might also destroy healthy motor neurons.
Mitochondria problems. Mitochondria are the parts of your cells where energy is made. A problem with them might lead to ALS or make an existing case worse.
Oxidative stress. Your cells use oxygen to make energy. Your body may form some of this oxygen into toxic substances called free radicals, which can damage cells. The medication edaravone (Radicava) is an antioxidant that can help control these free radicals.
ALS affects everyone differently, but it causes a gradual loss of control in your voluntary muscles -- the ones you use to walk, talk, move, speak, eat, drink, and breathe.
Early symptoms of ALS may include:
- Muscle twitching in the arm, leg, shoulder, or tongue
- Muscle cramps, especially in your hands and feet
- Muscle tightness or stiffness
- Weakness in your hands, arm, leg, or only one side of the body
- Trouble speaking loudly
- Slurred speech
- Problems chewing or swallowing
Later on, ALS can cause you to:
- Trip or fall more often
- Drop things a lot
- Lose weight
- Drool or choke on liquid
- Feel tired all the time
- Have trouble controlling facial expressions
- Laugh or cry without meaning to
As the disease progresses, it affects more of your body. Eventually, you may not be able to control your muscles and do things on your own, including:
- Move your arms and legs
- Stand or walk
- Get in and out of bed
- Chew or swallow
- Talk or form words
- Breathe without help from a machine
Less commonly, you may notice changes in your memory or how you think and act.
Diagnosis and Testing
There isn’t one test used to diagnose ALS.
Your doctor will give you a physical exam and ask about your medical history. You’ll also get a neurologic exam to check how well your muscles and nerves work together. These tests measure your reflexes and check for muscle problems like weakness, wasting, or spasticity (stiffness).
Symptoms of ALS can mimic other medical problems. You’ll likely need several tests to rule out other health conditions and confirm an ALS diagnosis. The most common ones are:
- Electromyogram (EMG). Your doctor will poke a needle through your skin into your muscle to measure electrical activity. If you have ALS, your muscle fibers won’t fire as they should.
- Nerve conduction study. This test checks for communication problems between your nerves and muscles.
- Magnetic resonance imaging (MRI). Your doctor will take detailed images of your brain and spinal cord to check for tumors or other things that might cause your symptoms.
- Blood and urine tests. These can help your doctor rule out other health conditions.
- Spinal tap. This is also called a lumbar puncture. Your doctor may put a hollow needle in your lower back to take a sample of your spinal fluid.
- Muscle biopsy. Your doctor may remove a small part of your muscle so they can look at it under a microscope. They’ll give you numbing medicine first, so it doesn’t hurt. You may be more likely to get this test if there’s a chance you have another muscle disease besides ALS.
My Diagnosis Story
By Fred Shank, as told to Kara Mayer Robinson
I was diagnosed with ALS last year. The symptom that brought me to a doctor was a drop left foot. But looking back, there were other signs.
The earliest sign was struggling to keep flip-flops on my feet when I walked on a boardwalk after years of wearing them. I remember my toes couldn't grasp the soles easily and they’d slide or slip off.
Later, even though I was very active and in good shape -- I work out regularly, I play tennis twice a week, and I’m a Peloton enthusiast -- I remember not being able to fire up my legs and accelerate to reach a jump shot in tennis. At the time I chalked it up to getting older or being tired.
When I noticed the drop foot, I went to a sports medicine doctor, who suggested an MRI and X-rays. His initial concern was a herniated disk in my back, which we found by doing an EMG on my left leg. It showed the disk was disrupting my nerves.
He recommended spinal surgery; either full fusion or microfusion. But as I was deciding which one to have, my right leg started to show symptoms. We thought the herniated disk was now affecting both legs, so we went with full fusion spinal surgery.
Two months later, I wasn't bouncing back stronger and my nerves weren’t improving. I went to a neurologist, who recommended another EMG. I remember watching her face when she did the test on my legs and lower back. Things were off.
She needed to do more tests on my upper body and neck and asked me to come back at her next available time, which was nearly a month later.
She also diagnosed motor neuron disease (MND) with the possibility of ALS. She had me take the genetic test for ALS and told me about her hospital network’s ALS clinic.
I decided to get a second opinion at the ALS Clinic at Johns Hopkins. They got copies of my test, ran a full blood screen, and did a clinical exam. They said it was probable I had ALS and recommended starting treatment immediately. ALS apparently needs months to officially be diagnosed, but they didn't see a reason to wait, so I went with the Johns Hopkins team.
Doctors have to rule out nearly every other thing to arrive at ALS. There’s a genetic test, but it only identifies about 10% of the cases. It's a long road, not only because how the disease works but because of our health care system. There aren't neurologists on every street corner who have experience with MND or ALS. Finding someone with that insight and getting an appointment takes time, which can be terribly frustrating.
If you’re on this road, my advice is to be kind to yourself. It's a lot to deal with. No emotion is wrong.
Questions for Your Doctor
There’s a lot to know about ALS, and it may take more than one appointment for you to absorb all the information. Write down the topics you’d like to go over and bring the list with you. It’s easy to forget things when face-to-face with your medical team.
Here are some questions to get you started:
- What are the symptoms of ALS?
- What kind of ALS do I have?
- How do you know my symptoms are from ALS?
- Can you go over all my test results with me?
- What are all my treatment options?
- How can occupational, speech, and respiratory therapy help?
- Is there a cure for ALS?
- Does ALS cause pain?
You may also want to ask:
- Can I catch germs and get sick easier?
- Does ALS increase my chances of other health problems?
- What kind of exercise is best for someone with ALS?
- Do I need to change my diet?
- How fast will I lose muscle strength?
- Is there anything I can do to slow the progression of ALS?
- When should I get home health care services?
- How can I join a clinical trial?
When it comes to financial support, ask your doctor if you can talk to a social worker or navigator for advice. Some questions to ask are:
- How can I get help paying for my medical care?
- What does insurance cover?
- How can I apply for Medicare or Medicaid?
- How do I apply for disability or Social Security benefits?
- Do veterans get extra benefits? If so, how do I find out what they are and how to get them?
Your Treatment Plan
Medication and other therapies can make daily life better and more comfortable, but there’s no way to reverse damage caused by ALS or to cure the disease.
Treatment for ALS may include:
Medication. These are prescription drugs that may help you live longer or improve your quality of life. Medications approved to treat ALS include:
- Riluzole. (Exservan, Rilutek, Tiglutik kit). You take this drug by mouth, either as a liquid or a tablet that dissolves under your tongue. It may help you live 3 to 6 months longer.
- Edaravone (Radicava). You get this drug through a vein in your arm or as a pill. It may help you function a little better day to day, but scientists don’t know if it can help you live longer.
- Sodium phenylbutyrate and taurursodiol (Relyvrio). This drug comes in powder form. You can mix it with water or put it in a feeding tube. It may help slow disease progression, but we need more research to show how well it works for large groups of people with ALS.
Drugs to ease symptoms. Your doctor may also give you medicine to manage problems related to ALS, including:
- Muscle cramps or spasms
- Making extra spit or mucus
- Trouble sleeping
You can also take medicine to manage pseudobulbar affect (PBA). PBA is the medical name for sudden episodes of crying or laughing that happen at the wrong time. Your doctor can let you know if PBA treatment is right for you.
Other therapies. There are many things you can do to feel better with ALS. You’ll need to work with a team of health professionals to get the most benefit.
Your Care Team
Along with a regular doctor, you may see:
- A neurologist to prescribe ALS treatment.
- A dietitian to help you get good nutrition with easy-to-swallow foods or through a feeding tube.
- An occupational therapist to teach you about techniques and tools to stay independent.
- A physical therapist to help ease pain and keep you moving for as long as possible.
- A speech therapist to help you speak louder or use devices to communicate.
- A respiratory therapist who will check your breathing and provide respiratory care.
- A psychologist or counselor to get ongoing emotional and mental health support.
- A social worker to help with practical needs like how to pay for things or deal with insurance.
- A hospice nurse to help you with end-of-life care.
Taking Care of Yourself
ALS can be a challenge, but there are ways to take control of your life. Here are some ways to support yourself:
- Take time to feel whatever emotions you have and adjust to your diagnosis.
- Learn all you can about ALS.
- Work with your whole medical team.
- Eat a balanced diet with plenty of fruits and vegetables.
- Create a routine to add structure to your day.
- Come up with activities to challenge your mind.
- Join an ALS support group.
Ask your doctor or social worker to connect you with people who have ALS or visit the website of the ALS Association to find support groups in your area.
What to Expect
At first, your muscles get weak or stiff. You may have more trouble with fine movements -- such as trying to button a shirt or turn a key. You may stumble or fall more than usual. After a while, you can't move the muscles, including those in your head, neck, and throat.
Right now, there isn’t a cure for ALS. Most people live 2 to 5 years with the condition, although around 10% of people may live up to 10 years or longer after their diagnosis. An even smaller group may live more than 30 years.
You should still be able to taste, touch, smell, and hear. But for a minority of people with ALS, the disease may affect memory and your ability to make sound decisions.
Eventually, people with ALS lose control of all their voluntary muscles and will be paralyzed. You won’t be able to move your diaphragm, the muscle in the chest that helps you breathe. Most people from ALS die because they can’t breathe without the help of a machine. This is called respiratory failure.
How ALS Might Change Over Time
ALS is a progressive condition that causes you to lose control of your muscles in stages. At first, you may notice mild weakness, muscle twitching, or slurred speech that worsens over a few weeks. As the disease progresses, you’ll lose control of more vital voluntary muscles.
ALS is fatal for everyone who gets it, but the timeline is tough to predict. Your symptoms may worsen gradually over months or years or level off after a period of fast progression. If you want to know more, ask your doctor what signs and symptoms to watch for and when you might need daily assistance or more help.
Caring for Your Emotional and Mental Health
There’s no right way to react to ALS, and it’s natural to go through a range of emotions after your diagnosis. You may feel angry, sad, or scared. Many people feel anticipatory grief -- a strong sense of grief about future losses.
Strong feelings like shock may ease over time, while others, including death anxiety, may grow stronger. These mood symptoms can affect you just as much as physical problems. The good news is there are ways to boost your well-being no matter what you’re going through.
Your emotional and mental health support team may include a mix of people, including:
- Friends and family
- Others with ALS
- Psychologists or psychiatrists
- Social workers
- Spiritual and grief counselors
Most people with ALS don’t get anxiety or depressive disorders. But you should check in with your doctor if you have trouble managing your moods or can’t control negative thoughts and worries. Mental health treatment, including behavioral therapy, can help teach you skills to adapt to life with ALS.
Information for Caregivers
Like your loved one with ALS, you’re not in this alone. Reach out to friends, family, or neighbors when you need support. Most people are happy to help, they just don’t know how. Be specific about your emotional or practical needs.
Ask the doctor or social worker how you can get respite care. This is a type of relief offered to caregivers. During respite care, someone will stay with your loved one while you take a break for a few hours or a few days. You can run errands, rest in another part of your house, or take a short vacation.
The ALS Association’s Care Connection program can also match you with volunteers in your area who can tackle some of your everyday tasks. For example, you can ask for help with meals, rides to medical visits, or childcare.
You can also reach out to others who know what you’re going through. Caregivers who confide in each other often report less stress and other problems. Visit the ALS Association website to find an ALS Support Group in your area.
It’s important to ask for help when you need it because caregivers for people with ALS face higher odds of burnout. This is a type of physical, emotional, or mental tiredness caused by ongoing stress. Your chances of anxiety or depression also go up if your loved one needs constant care, but there are ways to bolster your well-being.
Here are some ways to practice self-care:
- Make sleep, healthy eating, and exercise a daily priority.
- Carve out some “me time” each day.
- Read a book, see a movie, or do something else you enjoy.
- Meet a friend or another caregiver for a supportive talk.
- Know when to say no.
You’ll also want to learn stress-management skills. Here are some techniques that may help you feel calm:
- Deep-breathing exercises
- Tai chi
- Progressive muscle relaxation
Talk to a professional counselor or therapist if you’re unsure how to manage stress or mood problems. Let them know if you have symptoms like pain, hopelessness, anger, trouble sleeping, or fatigue that don’t go away. These could be signs you need professional mental health treatment to feel better.
If you or a loved one is diagnosed with ALS, you may go through a range of emotions. Remember there’s no right way to feel about this disease. Give yourself time to let the news settle in.
Once you’re ready to learn more, ask your doctor or social worker how to find resources in your area. Let them know if you’re looking for practical help or emotional support.
Informational websites and social groups can help you connect with other like-minded people. You can start by searching online for “ALS support groups near me” to see what pops up. You’ll also find more info about how to find in-person or virtual support groups through:
- I Am ALS
- ALS Association
- ALS Facebook groups