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What is ALS?

Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative disease that

affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to

the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When

the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in

the later stages of the disease may become totally paralyzed.

A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment"No muscle

nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the

nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.

As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often

include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages

from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue atrophies.

What Types of Nerves Make Your Body Work Properly?

(from Living with ALS, Manual 1: What's It All About?)

The body has many kinds of nerves. There are those involved in the process of thinking, memory, and of detecting sensations (such as hot/cold, sharp/dull),

and others for vision, hearing, and other bodily functions. The nerves that are affected when you have ALS are the motor neurons that provide voluntary

movements and muscle power. Examples of voluntary movements are your making the effort to reach for the phone or step off a curb; these actions are

controlled by the muscles in the arms and legs.

The heart and the digestive system are also made of muscle but a different kind, and their movements are not under voluntary control. When your heart beats

or a meal is digested, it all happens automatically. Therefore, the heart and digestive system are not involved in ALS. Breathing also may seem to be

involuntary. Remember, though, while you cannot stop your heart, you can hold your breath - so be aware that ALS may eventually have an impact on

breathing.

Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific understanding regarding the physiology of

this disease.

While there is not a cure or treatment today that halts or reverses ALS, there is one FDA approved drug, riluzole, that modestly slows the progression of ALS

as well as several other drugs in clinical trials that hold promise.

Importantly, there are significant devices and therapies that can manage the symptoms of ALS that help people maintain as much independence as possible

and prolong survival. It is important to remember that ALS is a quite variable disease; no two people will have the same journey or experiences. There are

medically documented cases of people in whom ALS burns out, stops progressing or progresses at a very slow rate. No matter what your individual course or

situation may be, The ALS Association and your medical team are here to help.

To learn more about the personal stories of people who are living fully, click here. As one man put it, Ive made ALS part of my life, not my whole life.

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Symptoms

Initial Symptoms of the Disease

At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms

and the progression of the illness, the course of the disease may include the following:

muscle weakness in one or more of the following: hands, arms, legs or the muscles of speech, swallowing or breathing

twitching (fasciculation) and cramping of muscles, especially those in the hands and feet

impairment of the use of the arms and legs

"thick speech" and difficulty in projecting the voice

in more advanced stages, shortness of breath, difficulty in breathing and swallowing

The initial symptoms of ALS can be quite varied in different people. One person may experience tripping over carpet edges, another person may have trouble

lifting and a third person's early symptom may be slurred speech. The rate at which ALS progresses can be quite variable from one person to another.

Although the mean survival time with ALS is three to five years, many people live five, ten or more years. In a small number of people, ALS is known to remit or

halt its progression, though there is no scientific understanding as to how and why this happens. Symptoms can begin in the muscles of speech, swallowing or

in the hands, arms, legs or feet. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. But, progressive

muscle weakness and paralysis are universally experienced.

Muscle weakness is a hallmark initial sign in ALS, occurring in approximately 60% of patients. Early symptoms vary with each individual, but usually include

tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches and/or uncontrollable periods of laughing or

crying.

The hands and feet may be affected first, causing difficulty in lifting, walking or using the hands for the activities of daily living such as dressing, washing and

buttoning clothes.

As the weakening and paralysis continue to spread to the muscles of the trunk of the body the disease, eventually affects speech, swallowing, chewing and

breathing. When the breathing muscles become affected, ultimately, the patient will need permanent ventilatory support in order to survive.

Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder

are generally not affected.

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Diagnosing ALS

ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS. It is

through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be

established. A comprehensive diagnostic workup includes most, if not all, of the following procedures:

electrodiagnostic tests including electomyography (EMG) and nerve conduction velocity (NCV)

blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals

spinal tap

x-rays, including magnetic resonance imaging (MRI)

myelogram of cervical spine

muscle and/or nerve biopsy

thorough neurological examination

For more information on the importance of a second opinion, click here.

These tests are done at the discretion of the physician, usually based on the results of other diagnostic tests and the physical examination. There are several

diseases that have some of the same symptoms as ALS and most of these conditions are treatable. It is for this reason that The ALS Association recommends

that a person diagnosed with ALS seek a second opinion from an ALS "expert" - someone who diagnoses and treats many ALS patients and has training in

this medical specialty. The ALS Association maintains a list of recognized experts in the field of ALS. See ALS Association Certified Centers of

ExcellenceSM, ALS Clinics and contact your local ALS Association Chapter or the National Office.

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Who Gets ALS?

ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time. According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian.

Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, cases of the disease do occur

in persons in their twenties and thirties. Generally though, ALS occurs in greater percentages as men and women grow older. ALS is 20% more common in

men than in women. However with increasing age, the incidence of ALS is more equal between men and women.

There are several research studies past and present investigating possible risk factors that may be associated with ALS. More work is needed to

conclusively determine what genetics and/or environment factors contribute to developing ALS. It is known, however, that military veterans, particularly those

deployed during the Gulf War, are approximately twice as likely to develop ALS.

Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than

ten years.

There is some evidence that people with ALS are living longer, at least partially due to clinical management interventions, riluzole and possibly other

compounds and drugs under investigation.

Last revised 2/2011

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Forms of ALS

Three classifications of ALS have been described:

Sporadic - the most common form of ALS in the United States - 90 to 95% of all cases.

Familial - occurring more than once in a family lineage (genetic dominant inheritance) accounts for a very small number of cases in the United States - 5 to 10% of all cases.

Guamanian - an extremely high incidence of ALS was observed in Guam and the Trust Territories of the Pacific in the 1950's.

The most common form of ALS in the United States is "sporadic" ALS. It may affect anyone, anywhere. "Familial" ALS (FALS) means the disease is inherited.

Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the

gene mutation and may develop the disease.

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Facts You Should Know

ALS is not contagious.

It is estimated that ALS is responsible for nearly two deaths per hundred thousand population annually.

Approximately 5,600 people in the U.S. are diagnosed with ALS each year. The incidence of ALS is two per 100,000 people, and it is estimated that as many as 30,000 Americans may have the disease at any given time.

Although the life expectancy of an ALS patient averages about two to five years from the time of diagnosis, this disease is variable and many people live with quality for five years and more. More than half of all patients live more than three years after diagnosis.

About twenty percent of people with ALS live five years or more and up to ten percent will survive more than ten years and five percent will live 20 years. There are people in whom ALS has stopped progressing and a small number of people in whom the symptoms of ALS reversed.

ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.

ALS can strike anyone.

The onset of ALS is insidious with muscle weakness or stiffness as early symptoms. Progression of weakness, wasting and paralysis of the muscles of the limbs and trunk as well as those that control vital functions such as speech, swallowing and later breathing generally follows.

There can be significant costs for medical care, equipment and home health caregiving later in the disease. It is important to be knowledgeable about your health plan coverage and other programs for which your may be eligible, including SSA, Medicare, Medical and Veteran Affairs benefits.

Riluzole, the first treatment to alter the course of ALS, was approved by the FDA in late 1995. This antiglutamate drug was shown scientifically to prolong the life of persons with ALS by at least a few months. More recent studies suggest Riluzole slows the progress of ALS, allowing the patient more time in the higher functioning states when their function is less affected by ALS. Click here for more information on the drug. Many private health plans cover the cost of Riluzole. Further information on Riluzole coverage through Medicare Prescription Drug Benefit can be found in the Advocacy pages of this website.

Reports from three separate patient databases described long range experience with Riluzole. All three reports suggest a trend of increasing survival with Riluzole over time. More studies that are double blind and controlled are needed to confirm these database observations. The trend appears to indicate that longer periods of time than those used in the Riluzole clinical trials may be needed to see the long-term survival advantage of the drug. An interesting observation was that despite the fact that the Irish government provides Riluzole free of charge to people in Ireland with ALS, only two-thirds of the patients registered in the Ireland national ALS database reported taking Riluzole.

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Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing

By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor

Familial ALS

Most of the time ALS is not inherited. In about 90% of cases, the person is the only member of the family with the disease. These cases are called sporadic ALS. The cause of sporadic ALS is not well understood, but may be due to a combination of environmental and genetic risk factors.

About 10% of cases are considered familial ALS (FALS). In these cases, more than one person in the family has ALS and sometimes family members have frontotemporal dementia as well. People with FALS often start having symptoms at earlier ages than in sporadic ALS.

FALS is most often autosomal dominant. This means a parent who has a genetic change (or mutation) that causes ALS has a 50% chance of passing that mutation to each of his or her children. Both men and women are equally likely to inherit the genetic mutation. Typically, although not always, there will be someone in each generation with ALS and/or dementia. FALS can present at different ages in different family members.

Someone with autosomal dominant FALS has one copy of the gene with a mutation and one copy of the gene without a mutation. A child born to someone with FALS has a 50% chance of inheriting the FALS gene mutation and a 50% chance of inheriting the gene without the mutation. This 1 in 2, or 50% chance, comes from the fact that a parent randomly passes on only one member of their gene pair. Even though parents often feel responsible for their children's health, they have no control over which gene they pass on, just as their parent had no control which gene they passed onto their child. If a child does not inherit the gene mutation for FALS, they cannot pass it onto their children. Inheriting a gene for FALS does not guarantee a person will develop symptoms of ALS.

Genetic Counseling

If there is more than one person with ALS and/or frontotemporal dementia in your family, you may want to meet with a genetic counselor. Meeting with a genetic counselor involves taking a detailed family history, evaluating risks, and discussing the impact of genetic testing.

A genetic counselor can help you work through the pros and cons of genetic testing based on your concerns and values. Genetic counseling does not always lead to genetic testing.

For more information about genetic counseling or how to find a counselor in your area, please visit www.nsgc.org.

Genetic Testing

Genetic testing can help determine the cause of FALS in a family. Testing is most useful in a person who has been diagnosed with ALS. About 50% of individuals with FALS will have a mutation identified. Those families with FALS where a mutation is not identified probably have FALS caused by a gene or genes that have not yet been discovered. Not having an identified genetic mutation does not eliminate a FALS diagnosis and other family members may still be at risk for developing ALS.

If a mutation has been identified, biological family members who dont have symptoms can be tested to see if they inherited the genetic mutation; this is called predictive testing. Some medical centers may require psychological assessment and counseling before predictive testing.

If a person in the family with ALS has a negative genetic test result (no identified genetic mutation), testing family members without a diagnosis of ALS will not provide more information. If no one in the family with ALS is available for genetic testing, a negative test result in an unaffected person cannot be interpreted.

Genetic testing usually involves taking blood or spitting in a special type of tube. Because this testing needs to be ordered by a healthcare professional, the sample is usually taken in the doctors office or in a lab associated with the doctors office. Results can take anywhere from a few weeks to a few months depending on the type of testing ordered. Results should be communicated by the genetic counselor or doctor who ordered the test. This is often done in person at a follow-up appointment or sometimes by telephone.

Because FALS usually doesnt usually appear until later in life, genetic testing of children under age 18 is not usually recommended.

Genetic testing is a personal choice. Some people with ALS want genetic testing to better understand why they got the disease and help other family members. Some unaffected people want to know if they are at risk for ALS, while others would prefer not to know. Consultation with a genetic counselor can help you decide if testing is the right decision for you.

Some reasons people at-risk for FALS decide to have testing include: getting more information to help make life decisions, allowing time to adjust to the fact they will likely get ALS, reducing anxiety, to help guide reproductive decisions and to provide information for the next generation.

Some reasons people at-risk for FALS decline genetic testing include: the desire to avoid worry about getting ALS, knowing there is currently no treatment, and avoiding guilt about passing it on to children or testing negative when others in the family test positive.

Genetic testing may:

Explain if there is a genetic cause of ALS in the family.

Allow other family members to have testing to see if they carry the genetic mutation.

Allow couples planning on having children to pursue prenatal testing.

Genetic testing does not:

Currently change medical treatment.

Diagnose ALS in people without symptoms.

Tell a person without symptoms when they may start showing symptoms or what their progression will be.

Technology is changing rapidly and costs of testing are decreasing. More genes are being identified, so it may be useful to contact your genetic counselor periodically for updates.

DNA banking is a valuable option for people with ALS who do not currently have an identifiable genetic mutation. DNA banking means storing a persons blood so that it is available for future testing. For more information, you can consult a genetic counselor.

Concerns about Genetic Testing

How much will it cost?

Genetic testing for all of the currently known FALS genes costs about $6,000. Genetic testing for one gene usually costs $1,500-2,000. When the genetic mutation in a family is already known, the cost to test for the familial mutation is usually around $400.

Genetic testing is not always covered by insurance. Check with your insurance company about any out of pocket expense prior to testing.

Could it lead to problems with employment discrimination or insurance discrimination?

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The Genetic Information Nondiscrimination Act of 2008 (also called GINA) is a federal law that protects people from genetic discrimination in health insurance and employment. Genetic information includes both a family history of ALS and a positive genetic test result. Please visit http://www.ginahelp.org for more information.

GINA does NOT cover health insurance eligibility, premiums, or coverage for people who have already been diagnosed with ALS.

GINA does NOT cover life insurance, long-term care, or disability. If you plan to have predictive testing, you should consider having these plans in place prior to testing.

For more information or to find a genetic counselor near you, please visit the web-site for the National Society of Genetic Counselors www.nsgc.org.

For general information about genetics, please visit Genetic Alliance http://www.geneticalliance.org/ and Learn Genetics http://learn.genetics.utah.edu/.

The ALS Association thanks and acknowledges Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor for sharing her time and expertise on this factsheet.

October, 2014

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Help For People with ALS and CaregiversALS

Insight e-newsletter

The ALS Associations Care Services electronic newsletter, ALS Insight is published monthly. ALS Insight

covers a broad range of subjects including stories about people living with ALS, Q&A with medical

professionals, tips on daily living and communication, and webinar announcements.

Sign up to receive ALS Insight

Connections to distinguished regional care institutions

ALS Association Certified Centers of Excellence

ALS Clinics who work closely with our chapters

Printed educational materials about:

ALS and its effects on motor function

What to expect as the disease progresses

Living with ALS - coping and symptom management including mobility, speech, swallowing, and breathing problems

How to care for a person with ALS at home including physical care, nutrition and emotional issues

Medications for ALS and symptom management

Research progress

A suggested reading list that includes a number of books for and about ALS patients and their family caregivers covering a wide variety of specific topics from The ALS Association's FYI Information Index Visit The ALS Association's library

Support groups:

Many support groups are designed to meet the special needs of ALS family caregivers.

Other support groups devote a portion of the meeting time to meet with family caregivers separate from the persons with ALS.

Support group programs include speakers and resources specifically designed for family caregivers.

Support groups provide networking opportunities for family caregivers to meet one another and offer each other mutual support and practical problem solving strategies. Find your local support group

Equipment Loan Programs:

Most ALS Association chapters loan a range of equipment to ALS families. Equipment such as a lift device, wheelchair or communication device can make a significant difference to the family caregiver as well as the ALS patient.

Respite Programs:

Many ALS Association chapters offer respite programs to provide family caregivers time away from the home and their responsibilities. Caregivers can use the time - from a few hours to a full day or more - to take care of personal matters, catch up with family and friends and have a chance for rest and relaxation. Find your local chapter

Affiliations:

The ALS Association is affiliated and works closely with the following groups:

National Family Caregivers Association

National Alliance for Caregiving

Family Caregiver Alliance