Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic lateral sclerosis, or ALS, is a neurodegenerative disease that targets the nerve cells (neurons) in your brain and spinal cord. It affects your muscle control. Symptoms worsen over time.

You might notice muscle weakness and muscle twitching that affect your ability to walk independently, reach for objects, chew food and talk. ALS eventually causes your muscles to waste away (atrophy). Atrophy can make it harder to breathe and may lead to life-threatening outcomes.

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

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

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

Types of ALS

There are two types based on their cause:

• Sporadic ALS. The most common type makes up about 90% of cases. It occurs randomly and isn’t inherited.
• Familial ALS. It makes up about 10% of cases. It’s caused by inherited gene changes passed down from a parent.

Symptoms of ALS

Amyotrophic lateral sclerosis symptoms include:

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

Early symptoms are usually muscle weakness or stiffness in your arms and legs, as well as trouble with speech and swallowing. These can make everyday tasks like writing or eating more challenging. Over time, symptoms typically spread throughout your body. The speed at which symptoms progress varies from person to person.

As symptoms get more severe, you may have trouble breathing, standing or walking. You might experience significant weight loss. Contact your healthcare provider if symptoms worsen, and seek emergency care if you’re having trouble breathing.

ALS causes

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

• Genetics. About 70% of familial cases and 5% to 10% of sporadic cases involve gene changes. They’re most often in the C9orf72, SOD1, TARDBP and FUS genes. There are more than 40 related genes.
• Environment. Exposure to toxins (like lead or mercury), viruses or trauma may also play a role.

What researchers do know is that the disease targets motor neurons. These regulate your voluntary movements, like talking, chewing, moving your limbs and breathing.

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

Is ALS genetic?

Some types of amyotrophic lateral sclerosis 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.

Risk factors of ALS

Risk factors for amyotrophic lateral sclerosis include:

• Age. You’re most likely to develop symptoms between the ages of 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 are at higher risk.
• Veterans. Military veterans may be at higher risk. Researchers suggest it’s from environmental exposure (toxins or pesticides) or physical trauma.

Complications of ALS

This condition will shorten your life expectancy as symptoms get more severe. Learning about this disorder 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.

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 doctors diagnose ALS

A healthcare provider will do a physical exam, neurological exam and testing to make a 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 different exams and testing are necessary for an accurate diagnosis.

What tests diagnose ALS?

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

• Blood tests
• Urine tests
• Electromyogram (EMG) to test muscle activity
• 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

ALS treatments

No treatment can reverse ALS damage. But it may help delay the progression of symptoms and make you more comfortable.

Your care team might recommend the following:

• 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.

ALS medication

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

• Riluzole may reduce damage to motor neurons. It may extend survival by a few months.
• Edaravone can slow the decline in your muscle functioning.
• Sodium phenylbutyrate/taurursodiol can slow the progression of symptoms.
• Tofersen can decrease some damage to neurons. This may help if your provider finds a genetic change on the SOD1 gene.

Other medications are available to manage your symptoms. This could include 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, including:

• Physical therapy helps you stay independent and safe through gentle exercises that strengthen muscles and support overall health.
• Occupational therapy teaches strategies for daily tasks and using assistive devices like wheelchairs or braces without tiring yourself out.
• Speech therapy supports safe swallowing and communication, helping you speak as long as possible and conserve energy with nonverbal options.

Nutritional support

With ALS, it can be hard to eat and drink enough to meet your body’s needs. Swallowing difficulties may cause weight loss and make it harder to get essential vitamins and minerals.

A dietitian can help you follow a meal plan that avoids hard-to-swallow foods and provides the right balance of calories, fiber and fluids. Nutritional counseling supports healthy eating, and a nutritionist can suggest alternatives as swallowing becomes more challenging.

If needed, a feeding tube may reduce the risk of choking or pneumonia from food or liquid entering your lungs.

Breathing support

As ALS progresses, breathing may become difficult. Noninvasive ventilation (NIV), delivered through a mask over your nose and mouth, can make breathing more comfortable. You may start using it at night and eventually need it full time.

Over time, you might need mechanical ventilation with a respirator to help inflate and deflate your lungs. Let your care team know if you feel short of breath, especially when lying down or being active. They’ll discuss options to make breathing easier.

When should I see my healthcare provider?

Contact your healthcare provider if you:

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

ALS can make breathing difficult. Symptoms of breathing problems that mean 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.

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.

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.

What is the prognosis for ALS?

The outlook for ALS is poor because of how it affects motor neuron function. Your prognosis depends on how quickly the damage happens. While no treatment can reverse this damage, your provider can offer options to slow symptom progression.

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

If you have ALS, you may want to join a clinical trial. These studies help researchers develop new treatments and better understand the disease.