Amyotrophic Lateral Sclerosis

What is the definition of Amyotrophic Lateral Sclerosis?

Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve cells in the brain, brain stem and spinal cord that control voluntary muscle movement.

ALS is also known as Lou Gehrig disease.

What are the alternative names for Amyotrophic Lateral Sclerosis?

Lou Gehrig disease; ALS; Upper and lower motor neuron disease; Motor neuron disease

What are the causes for Amyotrophic Lateral Sclerosis?

One out of 10 cases of ALS is due to a genetic defect. The cause is unknown in most other cases.

In ALS, motor nerve cells (neurons) waste away or die, and can no longer send messages to muscles. This eventually leads to muscle weakening, twitching, and an inability to move the arms, legs, and body. The condition slowly gets worse. When the muscles in the chest area stop working, it becomes hard or impossible to breathe.

ALS affects approximately 5 out of every 100,000 people worldwide.

Having a family member who has a hereditary form of the disease is a risk factor for ALS. Other risks include military service. Some risk factors are controversial.

What are the symptoms for Amyotrophic Lateral Sclerosis?

Symptoms usually do not develop until after age 50, but they can start in younger people. People with ALS have a loss of muscle strength and coordination that eventually gets worse and makes it impossible for them to do routine tasks such as going up steps, getting out of a chair, or swallowing.

Weakness can first affect the arms or legs, or the ability to breathe or swallow. As the disease gets worse, more muscle groups develop problems.

ALS does not affect the senses (sight, smell, taste, hearing, touch). Most people are able to think normally, although a small number develop dementia, causing problems with memory.

Muscle weakness starts in one body part, such as the arm or hand, and slowly gets worse until it leads to the following:

• Difficulty lifting, climbing stairs, and walking
• Difficulty breathing
• Difficulty swallowing -- choking easily, drooling, or gagging
• Head drop due to weakness of the neck muscles
• Speech problems, such as a slow or abnormal speech pattern (slurring of words)
• Voice changes, hoarseness

Other findings include:

• Depression
• Muscle cramps
• Muscle stiffness, called spasticity
• Muscle contractions, called fasciculations
• Weight loss

What are the current treatments for Amyotrophic Lateral Sclerosis?

There is no known cure for ALS. A medicine called riluzole helps slow the symptoms and helps people live slightly longer.

Two medicines are available that help slow the progression of symptoms and may help people live slightly longer:

• Riluzole (Rilutek)
• Edaravone (Radicava)

Treatments to control other symptoms include:

• Baclofen or diazepam for spasticity that interferes with daily activities
• Trihexyphenidyl or amitriptyline for people with problems swallowing their own saliva

Physical therapy, rehabilitation, use of braces or a wheelchair, or other measures may be needed to help with muscle function and general health.

People with ALS tend to lose weight. The illness itself increases the need for food and calories. At the same time, problems with choking and swallowing make it hard to eat enough. To help with feeding, a tube may be placed into the stomach. A dietitian who specializes in ALS can give advice on healthy eating.

Breathing devices include machines that are used only at night, and constant mechanical ventilation.

Medicine for depression may be needed if a person with ALS is feeling sad. They also should discuss their wishes regarding artificial ventilation with their families and providers.

What are the support groups for Amyotrophic Lateral Sclerosis?

Emotional support is vital in coping with the disorder, because mental functioning is not affected. Groups such as the ALS Association may be available to help people who are coping with the disorder.

Support for people who are caring for someone with ALS is also available, and may be very helpful.

What is the outlook (prognosis) for Amyotrophic Lateral Sclerosis?

Over time, people with ALS lose the ability to function and care for themselves. Death often occurs within 3 to 5 years of diagnosis. About 1 in 4 people survive for more than 5 years after diagnosis. Some people live much longer, but they typically need help breathing from a ventilator or other device.

What are the possible complications for Amyotrophic Lateral Sclerosis?

Complications of ALS include:

• Breathing in food or fluid (aspiration)
• Loss of ability to care for self
• Lung failure
• Pneumonia
• Pressure sores
• Weight loss

When should I contact a medical professional for Amyotrophic Lateral Sclerosis?

Call your provider if:

• You have symptoms of ALS, particularly if you have a family history of the disorder
• You or someone else has been diagnosed with ALS and symptoms get worse or new symptoms develop

Increased difficulty swallowing, difficulty breathing, and episodes of apnea are symptoms that require immediate attention.

How do I prevent Amyotrophic Lateral Sclerosis?

You may want to see a genetic counselor if you have a family history of ALS.

REFERENCES

Fearon C, Murray B, Mitsumoto H. Disorders of upper and lower motor neurons. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 98.

Shaw PJ. Amyotrophic lateral sclerosis and other motor neuron diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 419.

van Es MA, Hardiman O, Chio A, et al. Amyotrophic lateral sclerosis. Lancet. 2017;390(10107):2084-2098. PMID: 28552366 www.ncbi.nlm.nih.gov/pubmed/28552366.