Amyotrophic Lateral Sclerosis (ALS)

Overview

A nervous system disease that weakens muscles and impacts physical function.

In this disease, nerve cells break down, which reduces functionality in the muscles that they supply. The cause is unknown.

The main symptom is muscle weakness.

Medication and therapy can slow ALS and reduce discomfort, but there's no cure.

ALS often begins with muscle twitching and weakness in a limb, or slurred speech. Eventually, ALS affects control of the muscles needed to move, speak, eat and breathe. There is no cure for this fatal disease.

Symptoms

Signs and symptoms of ALS vary greatly from person to person, depending on which neurons are affected. It generally begins with muscle weakness that spreads and gets worse over time. Signs and symptoms might include:

• Difficulty walking or doing normal daily activities
• Tripping and falling
• Weakness in your legs, feet or ankles
• Hand weakness or clumsiness
• Slurred speech or trouble swallowing
• Muscle cramps and twitching in your arms, shoulders and tongue
• Inappropriate crying, laughing or yawning
• Cognitive and behavioral changes

ALS often starts in the hands, feet or limbs, and then spreads to other parts of your body. As the disease advances and nerve cells are destroyed, your muscles get weaker. This eventually affects chewing, swallowing, speaking and breathing.

There's generally no pain in the early stages of ALS, and pain is uncommon in the later stages. ALS doesn't usually affect your bladder control or your senses.

Treatment

Treatments can't reverse the damage of amyotrophic lateral sclerosis, but they can slow the progression of symptoms, prevent complications, and make you more comfortable and independent.

You might need an integrated team of doctors trained in many areas and other health care professionals to provide your care. This might prolong your survival and improve your quality of life.

Your team will help you select the right treatments for you. You have the right to choose or refuse any of the treatments suggested.

Medications

The Food and Drug Administration has approved two drugs for treating ALS:

• Riluzole (Rilutek). Taken orally, this drug has been shown to increase life expectancy by 3 to 6 months. It can cause side effects such as dizziness, gastrointestinal conditions and liver function changes.
• Edaravone (Radicava). This drug, given by intravenous infusion, has been shown to reduce the decline in daily functioning. Its effect on life span isn't yet known. Side effects can include bruising, headache and shortness of breath. This medication is given daily for two weeks a month.

Your doctor might also prescribe medications to provide relief from other symptoms, including:

• Muscle cramps and spasms
• Constipation
• Fatigue
• Excessive saliva and phlegm
• Pain
• Depression
• Sleep problems
• Uncontrolled outbursts of laughing or crying

Therapies

Breathing care. You'll eventually have more difficulty breathing as your muscles weaken. Doctors might test your breathing regularly and provide you with devices to assist your breathing at night.

Physical therapy. A physical therapist can address pain, walking, mobility, bracing and equipment needs that help you stay independent. Practicing low-impact exercises can help maintain your cardiovascular fitness, muscle strength and range of motion for as long as possible.

Regular exercise can also help improve your sense of well-being. Appropriate stretching can help prevent pain and help your muscles function at their best.

A physical therapist can also help you adjust to a brace, walker or wheelchair and might suggest devices such as ramps that make it easier for you to get around.

Occupational therapy. An occupational therapist can help you find ways to remain independent despite hand and arm weakness. Adaptive equipment can help you perform activities such as dressing, grooming, eating and bathing.

An occupational therapist can also help you modify your home to allow accessibility if you have trouble walking safely.

Speech therapy. A speech therapist can teach you adaptive techniques to make your speech more understandable. Speech therapists can also help you explore other methods of communication, such as an alphabet board or pen and paper.

Nutritional support. Your team will work with you and your family members to ensure you're eating foods that are easier to swallow and meet your nutritional needs. You might eventually need a feeding tube.

Psychological and social support. Your team might include a social worker to help with financial issues, insurance, and getting equipment and paying for devices you need. Psychologists, social workers and others may provide emotional support for you and your family.

Causes

ALS affects the nerve cells that control voluntary muscle movements such as walking and talking (motor neurons). ALS causes the motor neurons to gradually deteriorate, and then die. Motor neurons extend from the brain to the spinal cord to muscles throughout the body. When motor neurons are damaged, they stop sending messages to the muscles, so the muscles can't function.

ALS is inherited in 5% to 10% of people. For the rest, the cause isn't known.

Researchers continue to study possible causes of ALS. Most theories center on a complex interaction between genetic and environmental factors.

Risk factors

Established risk factors for ALS include:

• Heredity. Five to 10 percent of the people with ALS inherited it (familial ALS). In most people with familial ALS, their children have a 50-50 chance of developing the disease.
• Age. ALS risk increases with age, and is most common between the ages of 40 and the mid-60s.
• Sex. Before the age of 65, slightly more men than women develop ALS. This sex difference disappears after age 70.
• Genetics. Some studies examining the entire human genome found many similarities in the genetic variations of people with familial ALS and some people with noninherited ALS. These genetic variations might make people more susceptible to ALS.

Environmental factors, such as the following, might trigger ALS.

• Smoking. Smoking is the only likely environmental risk factor for ALS. The risk seems to be greatest for women, particularly after menopause.
• Environmental toxin exposure. Some evidence suggests that exposure to lead or other substances in the workplace or at home might be linked to ALS. Much study has been done, but no single agent or chemical has been consistently associated with ALS.
• Military service. Studies indicate that people who have served in the military are at higher risk of ALS. It's unclear what about military service might trigger the development of ALS. It might include exposure to certain metals or chemicals, traumatic injuries, viral infections, and intense exertion.

Complications

As the disease progresses, ALS causes complications, such as:

Breathing problems

Over time, ALS paralyzes the muscles you use to breathe. You might need a device to help you breathe at night, similar to what someone with sleep apnea might wear. For example, you may be given a bilevel positive airway pressure (BiPAP) device to help with your breathing at night. This type of device supports your breathing through a mask worn over your nose, your mouth or both.

Some people with advanced ALS choose to have a tracheostomy — a surgically created hole at the front of the neck leading to the windpipe (trachea) — for full-time use of a respirator that inflates and deflates their lungs.

Speaking problems

Most people with ALS develop trouble speaking. This usually starts as occasional, mild slurring of words, but becomes more severe. Speech eventually becomes difficult for others to understand, and people with ALS often rely on other communication technologies to communicate.

Eating problems

People with ALS can develop malnutrition and dehydration from damage to the muscles that control swallowing. They are also at higher risk of getting food, liquids or saliva into the lungs, which can cause pneumonia. A feeding tube can reduce these risks and ensure proper hydration and nutrition.

Dementia

Some people with ALS have problems with memory and decision-making, and some are eventually diagnosed with a form of dementia called frontotemporal dementia.

What is the life expectancy of ALS?

Symptoms and Diagnosis

The rate at which ALS progresses can be quite variable, as well. Although the mean survival time with ALS is two to five years, some people live five years, 10 years or even longer. Symptoms can begin in the muscles that control speech and swallowing or in the hands, arms, legs or feet.

What happens when you have amyotrophic lateral sclerosis?

With ALS, motor neurons in your brain and spinal cord break down and die. When this happens, your brain can't send messages to your muscles anymore. Because the muscles don't get any signals, they become very weak. This is called atrophy.

What are the first warning signs of ALS?

Some common early symptoms include:

• Stumbling.
• A hard time holding items with your hands.
• Slurred speech.
• Swallowing problems.
• Muscle cramps.
• Worsening posture.
• A hard time holding your head up.
• Muscle stiffness.

Is exercise good for ALS patients?

Exercise may have many benefits for ALS patients, including reducing depression and improving strength and stamina.