Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) is a fatal type of motor neuron disease. It causes progressive degeneration of nerve cells in the spinal cord and brain. It's often called Lou Gehrig disease after a famous baseball player who died from the disease. ALS is one of the most devastating of the disorders that affect the function of nerves and muscles.

ALS does not affect the senses (such as seeing or hearing). It also usually does not affect mental functioning. It is not contagious. Currently, there is no cure for this disease.

ALS most commonly affects people of any racial or ethnic group between the ages of 40 and 70. But it can occur at a younger age.

There are 2 main types of ALS:

• Sporadic. This is the most common form of ALS in the U.S., making up 90% to 95% of all cases. These cases occur randomly, without any known cause. And there is no family history of ALS.
• Familial. This is an inherited form of ALS that affects a small amount of people. But many recent genetic discoveries suggest hereditary forms of ALS are more common than previously thought.

Experts do not know the cause of ALS. More recently, genetic causes are being seen as increasingly important. Research is also looking into possible environmental causes of ALS.

With ALS, you may first have weakness in a limb that develops over a matter of days or, more commonly, a few weeks. Then, several weeks to months later, weakness develops in another limb. Sometimes the initial problem can be one of slurred speech or trouble swallowing.

As ALS progresses, though, more and more symptoms are noticed. These are the most common symptoms of ALS:

• Twitching and cramping of muscles, especially those in the hands and feet.
• Loss of motor control in the hands and arms.
• Impairment in the use of the arms and legs.
• Tripping and falling.
• Dropping things.
• Persistent fatigue.
• Uncontrollable periods of laughing or crying.
• Slurred or thick speech and trouble in projecting the voice.

As the disease progresses, symptoms may include:

• Trouble breathing.
• Trouble swallowing.
• Paralysis.

The symptoms of ALS may look like other health medical problems. Always see your healthcare provider for a diagnosis.

There is no specific test to diagnose ALS. Your healthcare provider will consider your medical history and symptoms. He or she will also do certain tests to rule out other conditions, such as:

• Lab tests. These include blood and urine studies.
• Electrodiagnostic tests, such as electromyography (EMG) and nerve conduction study (NCS). These studies evaluate and diagnose disorders of the muscles and motor neurons. Your healthcare provider inserts electrodes into the muscle or places them on the skin overlying a muscle or muscle group to record electrical activity and muscle responses.
• MRI. This procedure uses large magnets, radio waves, and a computer to make detailed images of organs and structures within the body.

In some cases, other tests may be needed due to atypical features of ALS, such as:

• Muscle or nerve biopsy. In this procedure, your healthcare provider removes a sample of tissue or cells from the body and examines it under a microscope.
• Spinal tap (lumbar puncture). In this test, your healthcare provider places a special needle into the lower back, into the area around the spinal cord. There he or she can measure the pressure in the spinal canal and brain. Your healthcare provider will remove a small amount of cerebrospinal fluid (CSF) and test it for an infection or other problems. CSF is the fluid that bathes the brain and spinal cord.
• X-ray. This test uses invisible electromagnetic energy beams to make images of internal tissues, bones, and organs onto film.

For most people with ALS, the main treatment may involve the management of symptoms. This may include physical, occupational, speech, respiratory, and nutritional therapies. Some medicines and heat or whirlpool therapy may help relieve muscle cramping. Exercise, in moderation, may help maintain muscle strength and function.

There is no cure and no proven treatment for ALS. But the FDA has approved the medicines riluzole and endavarone.

These medicines may improve survival or slow physical decline in people with ALS.

Managing the symptoms of ALS is a process that is challenging for you, your caregivers, and your medical team. But it’s important to know that there are many community resources available for support and assistance.

Researchers are conducting studies to increase their understanding of genes that may cause the disease. They are also looking at the mechanisms that can trigger motor neurons to degenerate in ALS and approaches to stop the progress leading to cell death.

There is no cure for ALS. For most people, over a period of 3 to 5 years, the disease will progress, making voluntary movements of arms and legs impossible. In other people, the disease can rapidly worsen over a few months or have a very slow course over many years. Every patient is affected differently. In time, you will need help with personal care, eating, and mobility. Movement of the diaphragm for breathing is also impaired. You may need a ventilator for breathing. Most people with ALS die from respiratory failure.

ALS will eventually lead to disability and death. Although your ability to move and breathe independently will be affected, your intelligence and ability to think is usually not. You and your family will work closely with your healthcare provider to manage symptoms as they develop. Use of the medicines may prolong your life by a few months, particularly if you have trouble swallowing. Discuss ways to make living spaces more accessible and the use of mobility devices and wheelchairs. It’s very important to talk about end-of-life decisions with your loved ones.

Support groups such as the ALS Association may help you cope with the disease.

It is important that you keep your healthcare provider informed about new symptoms so she or he can recommend therapies and community resources appropriately. Most importantly, call your healthcare provider if you start to have trouble breathing.