Amyotrophic lateral sclerosis

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What is ALS?

Amyotrophic lateral sclerosis (ALS) is a progressive disease of

the nervous system. The cause is not known and there is no

cure, although progress is being made on both fronts. ALS is

also known as Lou Gehrig's disease after the famous baseball

player who died from it.

 

ALS attacks motor neurons, which are among the largest of all

nerve cells in the brain and spinal cord. These cells send

messages to muscles throughout the body. In ALS, motor neurons

die and the muscles do not receive these messages. As a result,

muscles weaken as they lose their ability to move. Eventually,

most muscle action is affected, including those which control

swallowing and breathing, as well as major muscles in the arms,

legs, back and neck. There is, however, no loss of sensory

nerves, so people with ALS retain their sense of feeling,

sight, hearing, smell and taste. The mind is not affected by

this disease and people with ALS remain fully alert and aware

of events. The course of ALS is extremely variable and it is

difficult to predict the rate of progression in any single

patient. For the majority of people with ALS, weakness tends to

progress over a three-to-five year period.

ALS can strike anyone, at any age, but generally ALS occurs

between the ages of 40 and 70. According to the National

Institutes of Health, some 4,600 people in the United States

are newly diagnosed with ALS each year. About 4 to 6 people per

100,000 worldwide get ALS. In a small percentage of patients,

ALS is genetic.

What are the Symptoms?

The first signs of ALS are often arm and leg weakness, muscle

wasting and faint muscle rippling. These symptoms occur because

muscles are no longer receiving the nutrient signals they need

for growth and maintenance -- a result of motor neurons dying.

ALS nerve degeneration may also cause muscle cramps and vague

pains, or problems with speech and swallowing. Some people with

the disease may lose some control over their emotional

responses. They may laugh or cry much more easily than in the

past. Eventually, all voluntary muscle action is affected.

 

How is ALS Diagnosed?

There is no specific test for diagnosing ALS. However, several

tests -- including nerve conduction studies and electromyogram

(EMG) -- are used to measure how well and quickly the nerves

are working. Ruling out other causes of muscular weakness is

important because ALS often mimics other treatable diseases.

Diagnosis requires special skills and neurologic tests. People

with ALS symptoms usually are referred to neurologists, who

specialize in the nervous system. Diagnosis may take several

months since an important part of the diagnostic process is to

confirm disease progression.

 

What causes ALS?

The cause of ALS is unknown. It attacks its victims at random.

However, it was recently discovered that five to ten percent of

those with ALS show a definite genetic pattern. In this rare

form, about one-half of the offspring may develop ALS. These

people show a gene defect that affects an enzyme called

superoxide dismutase. This enzyme eliminates toxic substances

called free radicals. Free radicals can cause nerve cells to

die and are associated with a number of diseases and even

implicated in aging itself. For most people with ALS, the vast

majority of their children are not at any greater risk to

develop this disease than the general population. This type of

ALS is often called "sporadic ALS" due to its unpredictable

nature.

ALS researchers have found no difference between the symptoms

and disease progression in the sporadic and genetic forms of

ALS. Therefore, since the genetic and acquired forms of ALS

appear to be similar, an understanding of the cause of the

genetic form could lead to treatment for all forms of the

disease.

 

Treatment

While there is no cure for ALS, research to solve the ALS

puzzle is ongoing. Scientific advances have led to approval of

the first treatment for the disease -- a medication that may

increase survival time. Other treatments under investigation

include several nerve growth factors which may help maintain

quality of life by maintaining nerve function. While each of

these therapies represent a step forward for people with ALS, a

cure remains to be discovered.

For the majority of people with ALS, the primary treatment

remains the management of ALS symptoms. Patients need to take

an active role in the design of their treatment regimen.

Ideally, ALS management involves physical, occupational,

speech, respiratory and nutrition therapy. For instance,

certain drugs and the application of heat or whirlpool therapy

may help to relieve muscle cramping. Exercise can help maintain

muscle strength and function. Exercise, however, is recommended

in moderation. Drugs also may be used to help combat fatigue,

but in some patients may worsen muscle cramps.

As the disease progresses, various assistive devices will help

a person with ALS maintain their independence and ensure

personal safety. For example, an ankle/foot brace can improve

function and conserve energy, as well as help avoid injury.

When neck, trunk and shoulder weakness makes walking or sitting

difficult, cervical collars, perhaps with an additional chest

and head strap, provide helpful support. A reclining chair is

preferable to a headrest to relieve fatigue of neck muscles.

There are also numerous devices to assist in feeding, dressing

and maintaining personal hygiene. Eventually, more substantial

equipment, such as wheelchairs, scooters, lifts and hospital

beds may be required.

It is important to know that speech therapists can help with

speech and swallowing difficulties as they develop. Also, drug

treatments can help patients who develop excessive saliva and

drooling. Family members of people with ALS should be

instructed in the Heimlich maneuver to provide assistance in a

life-threatening choking episode. Feeding tubes may be

necessary to maintain nutrition, as may breathing devices when

the disease affects the muscles of the chest. However, with

these supportive devices, there are physical, emotional and

financial implications, and their use should be discussed with

a physician well in advance of when the need arises. Managing

the symptoms is a process that is challenging for people with

ALS, their caregivers, and their medical team.

Of all the disabilities that affect a person with ALS, one of

the most devastating and most common is the progressive loss of

the ability to communicate. However, advances in computer

technology mean that persons with ALS today have vital new

electronic communications options that can be adapted to their

individual capabilities.

 

Progress through Research

Significant progress is being made in the study of ALS.

Although there is still no cure, recent clinical trials have

shown that some drugs affect nerve cell activity and may

increase the survival time for people with ALS. Newly developed

animal models of the genetic form of the disease, so-called

transgenic ALS mice, offer neurologic researchers the ability

to test therapies in mice. There is great hope that this and

other neuroscientific advances will lead to a cure in humans.

Talk with your doctor about being involved in future clinical

trials or about the drugs currently available for the treatment of this disease.