Amyotrophic Lateral Sclerosis (ALS)

What is ALS?

ALS, or amyotrophic lateral sclerosis, is a neurodegenerative condition that affects the nerve cells (neurons) in your brain and spinal cord. It targets your motor neurons. These regulate voluntary muscle movements (like the ones you use to talk, chew and move your arms and legs) and breathing.

Your neurons communicate with your muscles to tell them to move. ALS disrupts the communication, like bad phone reception. The messages sent from neurons to muscles break up and don’t get through clearly, which eventually causes the call to end. As a result of this poor connection, neurons can’t take any new calls.

Symptoms of ALS progressively get worse over time. You might notice muscle weakness and muscle twitching that affects your ability to walk independently, reach for objects, chew food and talk. ALS eventually causes your muscles to waste away (atrophy). Atrophy can interfere with your ability to breathe and lead to life-threatening outcomes.

Although there’s no cure for ALS, the treatments are constantly improving. The right combination of treatments can help slow the progression of the disease and improve your quality of life.

Why is ALS called Lou Gehrig’s disease?

ALS was formerly known as Lou Gehrig’s disease. Lou Gehrig was a famous baseball player in the 1920s and 1930s who had ALS.

What are the types of ALS?

There are two types of ALS based on their cause:

• Sporadic ALS: An estimated 90% of all ALS cases are sporadic. This means that the condition happens randomly. It isn’t inherited (passed from biological parents to children).
• Familial ALS: About 10% of ALS cases are familial. A gene change (mutation) causes it. You inherit the gene change from one or both of your biological parents during conception.

How common is ALS?

An estimated 5,000 people in the United States receive an ALS diagnosis each year.

What are the symptoms of ALS?

ALS symptoms include:

• Muscle weakness (arms, legs and neck).
• Muscle cramps.
• Twitching (fasciculations) in your hands, feet, shoulder and/or tongue.
• Stiff muscles (spasticity).
• Speech challenges (slurring words, trouble forming words).
• Drooling.
• Involuntary emotional expressions (like laughing or crying).
• Fatigue.
• Trouble swallowing (dysphagia).

These symptoms start out mild and get more severe. The speed at which symptoms progress varies from person to person.

ALS early symptoms

The first symptoms of ALS you might notice are muscle weakness and stiffness. These symptoms can affect your:

• Arms and legs (limb onset).
• Speech and swallowing (bulbar onset).

It may be more difficult for you to do routine things, like writing your name or buttoning your shirt. You might need more time to eat meals than usual.

No matter where the symptoms begin, they’ll spread to other parts of your body.

Severe ALS symptoms

Severe ALS symptoms can include:

• Shortness of breath and difficulty breathing.
• Inability to stand, walk or get out of bed independently.
• Weight loss and trouble maintaining a healthy weight.

If you experience severe symptoms, contact a healthcare provider. If you have trouble breathing, contact emergency services right away.

What causes ALS?

Researchers don’t know what causes ALS. They believe it’s a combination of the following factors:

• Genetics: Changes or variants in certain genes may cause ALS in up to 70% of familial cases and 5% to 10% of sporadic cases. There are more than 40 genes related to ALS. The most common affected genes include the C9orf72, SOD1, TARDBP and FUS genes that regulate how neurons function.
• Environment: Exposure to certain toxic substances (lead or mercury), viruses or physical trauma may cause ALS.

Is ALS genetic?

Yes, some types of ALS are genetic. You can inherit genetic changes that cause ALS from your biological parents. Inherited ALS isn’t common, though. Sometimes, genetic changes happen randomly, without a history in your biological family.

What are the risk factors for ALS?

Risk factors for ALS include:

• Age: You’re most likely to develop symptoms between ages 55 and 75.
• Race and ethnicity: White (non-Hispanic) people are most likely to get ALS.
• Sex: For cases that occur before age 55, men and people assigned male at birth are at higher risk than women and people assigned female at birth.
• Veterans: Military veterans may be at higher risk. Researchers suggest it’s from environmental exposure (toxins or pesticides) or physical trauma.

What are the complications of ALS?

ALS will shorten your life expectancy as symptoms get more severe. Learning about this diagnosis and dealing with it every day can take a toll on your mental health. You may feel overwhelmed, lost, hopeless or stressed. As a result, many people diagnosed with ALS also develop depression and anxiety.

It isn’t easy to manage ALS on your own. While you’ll be working with a number of providers for your physical health, make sure you take care of your emotional health as well. Talk to your care team or a mental health provider for help.

How is ALS diagnosed?

Your healthcare provider will offer a physical exam, neurological exam and testing to make an ALS diagnosis.

An ALS diagnosis doesn’t happen immediately. You’ll likely schedule several office visits to see your provider or referring physicians. Your provider will order multiple tests to learn more about your symptoms and how they affect your body. There are a lot of conditions that have similar symptoms to ALS, so multiple exams and testing are necessary for an accurate diagnosis.

What tests diagnose ALS?

You’ll need several tests to confirm an ALS diagnosis, including:

• Blood tests.
• Urine tests.
• Electromyogram (EMG) to measure the electrical activity of your nerves and muscles.
• A nerve conduction study to test your nerves’ ability to send signals.
• Magnetic resonance imaging (MRI) to look at your brain or spine for areas of damage.

Other tests can’t diagnose ALS but can help rule out different conditions that may cause similar symptoms:

• A lumbar puncture.
• Muscle and/or nerve biopsy.

How is ALS treated?

No treatment can reverse motor neuron damage. But treatment can help delay the progression of symptoms and improve your quality of life.

Your care team might recommend the following treatments for ALS:

• Medications.
• Therapies or rehabilitation.
• Nutritional support.
• Breathing support.

You may need different types or more treatment options as the disease progresses. In addition, supportive care is available to meet your needs so you can live as comfortably and independently as possible for as long as possible.

What medications treat ALS?

There are four medications approved by the U.S. Food and Drug Administration (FDA) to treat ALS:

• Riluzole may help reduce damage to the motor neurons. It may extend survival by a few months. You can take this medication by mouth (orally).
• Edaravone can slow the decline in your muscle functioning. You can take this medication by mouth or a provider can administer it into a vein in your arm (intravenously). One form of this medication can be given through a feeding tube.
• Sodium phenylbutyrate/taurursodiol can slow the progression of symptoms. This is an oral medication you can take by mouth.
• Tofersen can decrease some damage to neurons. This spinal injection can help if your provider finds a genetic change on the SOD1 gene.

Other medications are available to manage your symptoms, like medications for muscle cramps, stiffness and excess saliva production, pain and mental health challenges.

ALS therapies

Your provider might recommend different types of therapy or rehabilitation for ALS, including:

• Physical therapy: The goal of physical therapy for ALS is to help you remain independent and safe. Gentle aerobic exercise, such as walking or swimming, can strengthen muscles and improve your general health.
• Occupational therapy: Occupational therapy teaches you techniques and strategies for moving through your day. This is helpful if you need to use assistive devices, like a wheelchair, walker or braces. Occupational therapists can help you learn how to use these devices and move without feeling exhausted.
• Speech therapy: Speech therapy provides strategies for safer swallowing, and communication training helps you maintain the ability to talk for as long as possible. Speech therapists can also teach you ways to communicate nonverbally. Even if you still have verbal abilities, you conserve energy with nonverbal communication.

Nutritional support for ALS

It can be difficult to eat enough foods and drink enough fluids to meet your body’s needs with ALS. You may have trouble swallowing or eating certain foods, which may cause to you lose weight quickly and not get enough vitamins and minerals to support and strengthen your body.

Dietitians can create a meal plan that avoids foods that are hard to swallow, and provides the right amount of calories, fiber and fluid for you. Nutritional counseling ensures you eat healthy, balanced meals. A nutritionist can also recommend other food options when swallowing becomes difficult.

At some point, you may need a feeding tube to get the nutrition you need. A feeding tube also reduces the risk of choking and pneumonia. These complications come from accidentally inhaling liquid or food in your lungs.

Breathing support for ALS

As ALS progresses, you may find it hard to breathe. You might benefit from a type of breathing support called noninvasive ventilation (NIV). You get NIV through a mask that you wear over your nose and mouth. It can make breathing more comfortable. You might start using NIV only at night, but may need NIV full time later on.

Eventually, you may need mechanical ventilation, which means using a respirator. This machine helps you breathe. It inflates and deflates your lungs.

Let your care team know if you experience shortness of breath, especially when lying down or during physical activity. They’ll discuss options to make breathing easier.

Can ALS be prevented?

There’s no proven way to prevent ALS. Research is ongoing to learn more about the causes and risk factors to help create prevention methods in the future.

What is the prognosis for ALS?

The outlook for ALS is poor due to how the condition affects the functioning of your motor neurons. Your prognosis depends on how quickly motor neurons receive damage. No available treatment can reverse motor neuron damage. But your provider will offer options to help reduce the speed of symptom progression.

How quickly does ALS progress?

There isn’t a set amount of time as to how quickly symptoms progress with ALS. They might progress faster without treatment. The speed can also vary by age, body composition at diagnosis (weight) and what symptoms you experience. Your provider may recommend taking certain medications that can help slow down disease progression.

ALS life expectancy

On average, the life expectancy after an ALS diagnosis is three to five years. An estimated 30% of people live five years or more and 10% to 20% live at least 10 years. Your life expectancy can vary from these statistics, so talk to your healthcare provider to learn more about your situation.

ALS cure

There’s no available cure for ALS at this time.

If you have ALS, you may be interested in clinical trials. These are tests and studies on certain conditions to help researchers formulate prevention methods or create new treatment options. Doing so can help further understanding of the disease. As researchers gain more knowledge about ALS, they can learn more about causes and risk factors, too, which may pave the way to a cure in the future.

When should I see a healthcare provider?

Contact your healthcare provider if you:

• Have trouble performing your daily routine.
• Notice ALS symptoms getting worse.
• Aren’t able to move around independently.
• Experience side effects from treatment.

ALS can make breathing difficult. Symptoms of pulmonary (breathing) problems that indicate you should contact your provider include:

• Shortness of breath, even during rest.
• Weak cough.
• Difficulty clearing your throat and lungs.
• Extra saliva.
• Inability to lie flat in bed.
• Repeated chest infections (pneumonia).

These symptoms can lead to respiratory failure, where you aren’t breathing in enough oxygen to support your body. This is life-threatening. Contact emergency services if you have trouble breathing.

What questions should I ask my healthcare provider?

If you receive an ALS diagnosis, ask your provider:

• What treatments are available?
• What medications can help?
• What are the side effects of treatment?
• How can I take care of myself?
• What types of therapy will I need?
• What steps can I take now to slow the progression of the disease?