Health Library Amyotrophic Lateral Sclerosis (ALS)From Healthwise

What is amyotrophic lateral sclerosis?

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive wasting away of certain nerve cells of the brain and spinal column called motor neurons. The motor neurons control the voluntary muscles, which are the muscles that allow movement.

ALS is a progressive, disabling, fatal disease. The course of the disease is different for everyone and some people live with ALS for many years. Walking, speaking, eating, swallowing, breathing, and other basic functions become more difficult with time. These problems can lead to injury, illness, and other complications.

In the United States and most other parts of the world, 1 to 2 people per 100,000 develop ALS each year. Men are affected slightly more often than women. Although ALS may occur at any age, it is most common in middle-aged and older adults.^{1, 2}

What causes ALS?

The cause of ALS is unknown. About 5% to 10% of people with ALS have an inherited form of the disease.³ ALS is not contagious.

What are the symptoms?

Over a period of months or years, ALS causes increasing muscle weakness, inability to control movement, and problems with speaking, swallowing, and breathing. The first sign of ALS is usually slight weakness in one leg, one hand, the face, or the tongue. Other problems may include increasing clumsiness and difficulty performing tasks that require precise movements of the fingers and hands. Frequent muscle twitching may occur. The weakness slowly spreads to the arms and legs over a period of months or years. As the nerves continue to waste away and decrease in number, the muscle cells that would normally be stimulated by those nerves also start to waste away, and the muscles weaken.

It is important to remember that having muscle weakness, fatigue, stiffness, and twitching doesn't necessarily mean that you have ALS.

How is ALS diagnosed?

ALS may be difficult to diagnose, and the diagnosis may not become clear until symptoms have progressed or until additional testing and observation have taken place.

If your health professional thinks you have ALS, you will likely be referred to a neurologist for diagnosis and treatment. ALS is diagnosed through a careful medical history, a detailed physical exam of the nervous system (neurologic exam), and tests that evaluate nerve and muscle function.

Tests needed to confirm the diagnosis include electromyogram (EMG) and nerve conduction studies. EMG helps measure how well and how quickly the nerves and muscles are working. Nerve conduction studies test nerve function.

Other tests may be needed to rule out other possible causes of the symptoms. These tests may include a nerve or muscle biopsy (tissue sample), blood tests, or imaging tests, such as computed tomography (CT) or magnetic resonance imaging (MRI) scans.

How is it treated?

Although there is no cure for amyotrophic lateral sclerosis (ALS), treatment can help you maintain strength and independence, manage symptoms, and avoid complications for as long as possible. Treatment also focuses on providing emotional support as your disability increases.

Physical therapy and occupational therapy may help maintain strength and function and make the most of remaining abilities. Speech therapy can help maintain the ability to communicate as speaking problems develop. Various medicines may be used to relieve symptoms and make you more comfortable.

A medicine called riluzole (Rilutek) may prolong survival by about 2 months.⁴ It is not known exactly how the medicine works, but it may slow the release of certain brain chemicals (neurotransmitters) that are believed to play a role in ALS. Riluzole is the only medicine approved for the treatment of ALS.

What decisions might I face as ALS progresses?

If you (or someone in your family) have ALS, learn as much as you can about the disease and your options for care. What you value and want are important factors in making choices about your care. As ALS progresses, you may face decisions about how aggressively you want to treat complications, such as breathing problems, difficulty eating, or pneumonia. As you make these decisions, remember that what's right for one person with ALS may not feel right for another person.

As the muscles that control swallowing become weaker, some people have problems with food and saliva being inhaled into the windpipe. Taking medicine and getting enough food can also be a problem. If this happens, you may choose to have a tube surgically inserted through the skin into the stomach (percutaneous endoscopic gastrostomy, or PEG) as a way to get adequate nutrition and take medicines.

Help with breathing may be needed as the muscles of the chest become weaker. Initially, extra oxygen can be given through a nasal cannula, a flexible plastic tube that is placed in the nostrils. For mild breathing problems, machines that deliver air or extra oxygen through a face mask may be used. These machines are called bilevel positive airway pressure (BiPAP) or noninvasive positive pressure ventilation (NPPV) machines. For severe breathing problems, a surgical opening in the neck leading to the windpipe (tracheostomy) may be created so oxygen can be delivered through a tube in the tracheostomy. As ALS gets worse and breathing problems increase, some people choose to support their breathing by being on a breathing machine, or ventilator, all the time.

How aggressively to treat the problems from ALS is a personal decision that only you and your loved ones can make. Regardless of your choices, your comfort can be maintained. It is important to discuss treatment options and share your concerns with your doctor.

Frequently Asked Questions

The symptoms of amyotrophic lateral sclerosis (ALS) include:

• Weakness or clumsiness in the hands and feet.
• Gradual loss of strength of the arms and legs.
• Inability to control the use of the arms and legs.
• Muscle twitches (fasciculations).
• A stiff, clumsy walking style.
• Difficulty swallowing, speaking, and breathing. You may notice a problem with drooling.
• Fatigue.
• Trouble controlling your emotions. You may burst into tears or start laughing for no reason.
• Muscle cramps, especially at night, which may occur late in the course of the disease.
• Pain during the late stages of the disease.

It is important to remember that having muscle weakness, fatigue, stiffness, and twitching doesn't necessarily mean that you have ALS.

The first sign of ALS is usually slight weakness in one leg, one hand, the face, or the tongue. Other problems may include increasing clumsiness and difficulty performing tasks that require precise movements of the fingers and hands. Muscle twitching may also occur. The weakness slowly spreads to the arms and legs over a period of months or years. As the nerves continue to waste away and decrease in number, the muscle cells that would normally be stimulated by those nerves also start to waste away, and the muscles weaken.

ALS is a progressive, disabling disease. Walking, speaking, eating, swallowing, breathing, and other basic functions become more difficult with time. These problems can lead to injury, illness, and other complications.

Respiratory problems are the most common serious complication of ALS. As the muscles in the throat and chest area become weak, swallowing and coughing become more difficult, which may sometimes cause food and saliva to be inhaled into the windpipe (aspiration). This may lead to pneumonia. Breathing problems tend to get worse as the disease progresses, increasing the risk of infection and respiratory failure.

Pneumonia, pulmonary embolism, lung failure, and heart failure (probably due to lack of adequate breathing as the chest muscles weaken) are the most common causes of death among people with ALS. In most cases, death will occur within 3 to 5 years after symptoms begin, although some people live for many years, even decades.¹

A diagnosis of amyotrophic lateral sclerosis (ALS) is based on a careful medical history, a physical exam of the nervous system, and tests that show how the nerves and muscles are working.

If your health professional thinks you have ALS, you may be referred to a neurologist for diagnosis and treatment. A medical history and detailed physical exam of the nervous system can usually help the neurologist diagnose your condition. Tests needed to confirm the diagnosis include electromyogram (EMG) and nerve conduction studies. EMG helps measure how well and how quickly the nerves and muscles are functioning. Nerve conduction studies test nerve function.

Depending on your doctor's findings during the nervous system exam and the results of EMG or nerve conduction studies, other tests may be needed to rule out other possible causes of your symptoms. These tests may include a nerve or muscle biopsy (tissue sample), blood tests, or imaging tests, such as a computed tomography (CT) scan or magnetic resonance imaging (MRI).

ALS may be difficult to diagnose, and the diagnosis may not become clear until symptoms have progressed or until additional testing and observation have taken place. If ALS is suspected, evaluation by a specialist who has experience treating and diagnosing ALS may lead to an earlier diagnosis. Although it does not affect the course or outcome of the disease, an early diagnosis may:

• Give you more time to make decisions about the future and take advantage of the time before symptoms become severe.
• Help you avoid inappropriate treatment resulting from an incorrect diagnosis.
• Give you the opportunity to participate in clinical trials of new treatments for ALS.

Although there is no cure for amyotrophic lateral sclerosis (ALS), treatment can help you maintain strength and independence, manage symptoms, and avoid complications for as long as possible. Treatment also focuses on providing emotional support as your disability increases.

Physical therapy and occupational therapy may help you maintain strength and function and make the most of your remaining abilities. Speech therapy can help you maintain your ability to communicate after speaking problems begin.

Medicines may be used to relieve symptoms and make you more comfortable. These include:

• Baclofen (Lioresal), tizanidine (Zanaflex), dantrolene (Dantrium), or benzodiazepines such as diazepam (Valium), to relieve muscle stiffness, spasms, and twitching.
• Quinine, phenytoin sodium (Dilantin), benzodiazepines, or gabapentin to relieve muscle cramps.
• Morphine, to help with breathing problems (dyspnea). Antianxiety medicines such as diazepam or lorazepam may be helpful in relieving anxiety caused by breathing problems. The American Academy of Neurology also considers acupuncture a useful option for breathing problems when used in addition to medicine or breathing devices.⁵
• Antidepressant medicines, to help with depression, sleeplessness, poor appetite, or fatigue, and to decrease the production of saliva (which may be helpful if you have trouble with the muscles that control swallowing).
• Pain relievers, to reduce muscle pain, which sometimes develops late in the course of the disease.

If you are having problems getting enough food or taking medicine, a tube can be inserted through the skin into the stomach (percutaneous endoscopic gastrostomy, or PEG). The tube provides an easier way to get adequate nutrition and take medicines.

Breathing devices (ventilators) may be needed as the muscles of the chest become affected. Initially, extra oxygen can be given through a nasal cannula, a flexible plastic tube that is placed in the nostrils. For people who have mild breathing problems, nonsurgical forms of ventilation may be used. These include bilevel positive airway pressure (BiPAP) and noninvasive positive pressure ventilation (NPPV), which deliver air or extra oxygen through a face mask. However, in some cases, an opening in the neck leading to the windpipe (tracheostomy) may have to be created and oxygen delivered through a tube in the opening.

At first, breathing devices may be needed only part of the time, such as when you are sleeping. As the disease and breathing problems get worse, you may need to be on a breathing machine all the time.

Riluzole

A medicine called riluzole (Rilutek) may prolong survival by about 2 months.⁴ It is not known exactly how the medicine works, but it may slow the release of certain brain chemicals (neurotransmitters) that are believed to play a role in ALS. Riluzole is the only medicine approved for the treatment of ALS.

There are some disadvantages to taking riluzole. Although it has been shown to prolong survival for about 2 months, it does not improve symptoms or quality of life in ways that people with ALS, their caregivers, or their doctors have been able to detect. Most people tolerate riluzole very well, but it can cause side effects, including nausea, vomiting, weakness, dizziness, and coughing. Because riluzole can cause liver problems, people taking the drug need to have their liver checked on a regular basis. Treatment with riluzole is also expensive, and it may not help some people who have certain forms of ALS.

If you have amyotrophic lateral sclerosis (ALS), it is important for you and your family to learn to cope with the effects of the disease. Much of your care will take place at home, and good home treatment can sometimes help manage symptoms and prevent complications.

Early in the course of the disease, light aerobic exercise and slow, easy stretching may help you stay strong, reduce fatigue and depression, and prevent muscle cramps and spasms. A physical therapist can help plan safe physical activities and evaluate your changing needs throughout the course of the disease.

People who have ALS often have problems chewing and swallowing. Making changes in your diet can help you avoid choking and ensure adequate nutrition. These might include eating smaller, more frequent meals and choosing foods that are soft and easy to swallow.

As ALS progresses, it will become more and more difficult to move around and perform basic daily activities. A variety of supportive devices and equipment can help you avoid injury and remain independent. These may include:

• A neck (cervical) collar to support the head if the neck muscles become weak.
• Foot and ankle braces, a cane, a walker, or a wheelchair to help you stay mobile.
• Ramps, handrails, a raised toilet seat, or a shower seat.
• Erasable writing tablets, voice amplifiers, or other devices to help you communicate if speaking becomes difficult.

There are lots of other devices that can help with bathing, eating, dressing, and communicating. Talk to an occupational therapist for suggestions on what devices might be best and what changes might make it safer and easier for you to live in your home. Ask your health professional about having a home health nurse come to your home to find out about your needs.

Planning for the future

If you or someone in your family has ALS, learn as much as you can about the disease and the options for care. As the disease progresses, you may have choices about care and treatment. As you face these decisions, remember that what's right for one person with ALS may not feel right for another person. What you value and want are important factors in making these choices.

Some people want every possible medical treatment to sustain life, while others prefer measures to maintain their comfort without prolonging life. It may be helpful to think about what kind of medical treatment you want. Discuss and decide how aggressively you want to treat complications of the disease, such as breathing problems, difficulty eating, or pneumonia. These decisions may need to be revisited throughout the course of the disease because you may change your mind over time. Some questions for you to consider include the following:

• Do you want a tracheostomy when breathing problems become severe? Tracheostomy provides long-term breathing assistance by making an opening in your neck that leads to your windpipe: oxygen can then be delivered through a tube in the opening. There are less invasive forms of breathing assistance that can be used prior to tracheostomy, but most people with the disease eventually face the decision of whether they want long-term mechanical assistance.
• What type of treatment, if any, do you want if pneumonia or another serious lung infection develops?
• Do you want a feeding tube placed in your stomach when your ability to swallow is reduced or lost?

You may find it helpful and comforting to state your health care choices in writing, in the form of an advance directive or living will, while you are still able to make and communicate these decisions. Also think about who you would choose as your health care agent to make and carry out decisions about your care if you were unable to speak for yourself. For more information, see the topics:

• Writing an Advance Directive.
• Choosing a Health Care Agent.

A time may come when your goals or the goals of your loved one may change from treating ALS to maintaining comfort and dignity. Hospice care health professionals focus on relieving pain and other symptoms and providing comforting surroundings at the end of life. For more information, see the topic Hospice Care.

Finding support

The progressive, disabling nature of ALS and the fact that it has no cure make it a very difficult disease to cope with. In addition to medical care, you will need emotional support from family, friends, doctors, and other caregivers. Support groups made up of other people who have ALS may be very helpful, as may counseling by a psychologist or psychiatrist.

Your family members may also need support as your condition deteriorates. Support groups or counseling may be helpful for them as well. Organizations such as the ALS Association (http://www.alsa.org) provide information on support services for people with ALS and for their families. For more information, see the Other Places to Get Help section of this topic.

Online Resource

Organizations

Citations

1. Younger DS, Hanif S (2003). Amyotrophic lateral sclerosis. In RW Evans, ed., Saunders Manual of Neurologic Practice, pp. 550–554. Philadelphia: Saunders.

2. Victor M, Ropper AH (2001). Degenerative diseases of the nervous system. In Adams and Victor's Principles of Neurology, 7th ed., pp. 1153–1158. New York: McGraw-Hill.

3. Rowland LP, Shneider NA (2001). Amyotrophic lateral sclerosis. New England Journal of Medicine, 344(22): 1688–1700.

4. Miller RG, et al. (2006). Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database of Systematic Reviews (1). Oxford: Update Software.

5. Miller RG, et al. (1999). Practice parameter: The care of the patient with amyotrophic lateral sclerosis (an evidence-based review). Neurology, 52: 1311–1323.

Other Works Consulted

• Feldman EL (2004). Amyotrophic lateral sclerosis and other motor neuron diseases. In L Goldman, D Ausiello, eds., Cecil Textbook of Medicine, vol. 2, pp. 2316–2319. Philadelphia: Saunders.

• Rowland LP, et al. (2005). Hereditary and acquired motor neuron diseases. In LP Rowland, ed., Merritt's Neurology, 11th ed., pp. 861–870. Philadelphia: Lippincott Williams and Wilkins.

Author:	Monica Rhodes	Last Updated: September 7, 2006
Medical Review:	Adam Husney, MD - Family Medicine Colin Chalk, MD, CM, FRCPC - Neurology
© 1995-2008 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.