Being Diagnosed with Amyotrophic Lateral Sclerosis

written by Melissa Ortiz, University of Florida
This paper is dedicated to: the memory of Patricia Campbell and her family

Everyone should be prescribed some exercise therapy, taking into account a possible disability. Physical activity not only improves health, but overall wellbeing. Careful examination of exercise recommendations should especially be done for people who have Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis, also known as ALS or Lou Gehrig’s disease, is a motor neuron disease that results from degradation of the motor nerve cells (or motor neurons) in the brain and spinal cord, which then evolves into progressive weakening of the muscles (Miller, Gelinas, & O’Connor, 2004).

ALS has a late onset, a fast degradation, and it leads to death; usually within 3 years of diagnosis. The illness begins with fatigue, cramping, muscle weakness and wasting of one or more limbs or fasciculation of the tongue, before it gets worse (Miller, Gelinas, & O’Connor, 2004). This is because the motor nerve cells are the cells that transfer messages from the brain, telling muscle what to do and when to do it. When the motor neurons start dying, they harden and leave scar spots on the brain or spinal cord. Scars make it harder for the brain to tell muscles how and when to function, which eventually leads to an inability to control those muscles.

Fasciculation of the tongue involves twitching and involuntary contractions, caused by interference due to nerve death and tissue hardening in signaling paths (motor neurons) from the brain to the muscles. All eventually leads to a person losing control of voluntary movement, and in some cases - breathing.

ALS is called Lou Gehrig's disease after the world-renowned baseball player for the New York Yankees who held a 60 year record for the most consecutive baseball games played by any baseball player (Miller, Gelinas, & O’Connor, 2004). He was one of the best baseball players of all time. Until his quick health degradation, Gehrig was always extremely fit and popularly called "The Iron Horse" for this durability, strength, and reliability (Eig, 2005). He's still a sign of heroism in light of a destructive condition.

As a person ages past 44 years old, the chance of being diagnosed with ALS increases - reaching a peak at 75-84 years of age. Then the chance of being diagnosed with ALS decreases. This is demonstrated in figure 1 below (Majoor-Krakauer, Willems, & Hofman, 2003). As can be seen, incidence rates are generally higher in men than in women.

Figure 1 represents age-specific incidence rates of ALS in men and women for Western Washington State, Harrison County, Texas, and Ireland. The prevalence of ALS is estimated at 4-6 out of 100,000 people, and that the 60-75 year old age-group is 33/100,000 in a population for men and 14/100,000 in a population for women (Majoor-Krakauer, Willems, & Hofman, 2003).

In the United States there are around 20,000 to 30,000 people living with ALS (Miller, Gelinas, & O’Connor, 2004). It's still not really known what causes this disease, and predicting who is at risk for it can only be done for a very small population who are at risk because of their genes. Women are somehow protected from the disease, because women tend to develop it at a later age compared to men and to develop it less. However, there is still no known reason why this happens. A lot of research still needs to be done.

Around 20% of people with a family history of the disease have it because of a SOD-1 gene abnormality (Miller, Gelinas, & O'Connor, 2004). Only one to two percent of people with ALS actually have the gene abnormality. This causes people to lack encouragement to be tested since there's a very high chance of having ALS with no gene abnormality. The gene is supposed to code for the protein SOD-1, which helps cleanse body cells of waste products known as free radicals (Miller, Gelinas, & O’Connor, 2004). Since free radicals are not being cleansed from the body, the free radicals destroy motor neurons and eventually the motor neurons die.

Other causes of ALS are theorized, such as having excessive stimulation of the motor nerve cells by the amino acid glutamate (Miller, Gelinas, & O’Connor, 2004). This is an amino acid necessary for signal relay throughout the motor neurons, normal growth, and metabolism. It's like a messenger between neurons. However, too much stimulation damages the neurons. Although it's known that over-stimulation of motor neurons causes damage, it's not completely known in most cases why a person gets ALS.

ALS is only one of a couple motor neuron diseases. Symptoms are shared by other diseases and conditions such as progressive muscular atrophy, HIV, multiple sclerosis, bulbar and pseudobulbar palsy, and neurofibroma of the dorsal spinal cord. ALS is usually diagnosed about 6-18 months after the onset of symptoms because of diagnostic difficulties when symptoms first begin, clinical variability, lack of specific biological markers, and the subclinical progression in the early course (Calvo et al., 2009).

Symptoms may first appear by having difficulty talking, chewing or swallowing, and/or having problems with breathing while eating. Some people start by having difficulty walking, clumsiness, weakness in one or both legs, and tripping. Others start with difficulty in hand and arm movements, such as buttoning a shirt, combing or washing their hair, or anything needing shoulder abduction. Eventually all these symptoms will present them self in a person with ALS; however, each person may begin with one or many symptoms.

Doctors usually use the El Escorial criteria to diagnose ALS, which has two panels (Mitchell & Borasio, 2007). The first panel is from suspected to definite, for lower and upper motor neuron signs in one or more regions, is probable with laboratory support criteria of lower and upper motor neuron signs in one region, or upper motor neuron signs in one or more regions with EMG evidence of acute denervation in two or more limbs.

The second panel includes direct and indirect symptoms that are attributable to ALS. Direct symptoms are due to motor neuronal degeneration, and indirect symptoms are a result of primary symptoms. Direct symptoms are those already mentioned, however, indirect symptoms include psychological disturbances, sleep disturbances, constipation, drooling, thick mucus secretion, symptoms of chronic hypoventilation, and pain (Mitchell & Borasio, 2007).

There are other tests that can help identify someone who has ALS, and may help clinical studies be more objective. The most widely used scale in clinical trials is the ALS functional rating scale (Mitchell & Borasio, 2007). Scales are used to assess quality of life status.

Other physical examinations have to be conducted, such as checking for toxicity in cells with free radicals and oxidant stress. Blood work should be done to check and rule out HIV and other diseases, as well as levels like creatine kinase tested to determine any effect on muscle functioning. Paraspinal electromyography (EMG) is a muscle biopsy that should be done to check for nerve conduction. MRI scans of cervical and lumbar regions can also rule out other conditions like neurofibroma.

Even though ALS is not curable, it is treatable. Immunomodulatory treatment globulin can be done in patients with severe weakness (Mitchell & Borasio, 2007). This helps muscle proteins develop, and to start working more on cleaning the muscle cells of any excess metabolic materials. Immunoglobins are also antibodies, which are plasma proteins needed to defend the body against bacterial and viral infections. Having a healthy immune system will help prevent autoimmune diseases (Pyne, Ehreinstein, & Morris, 2002).

To extend the survival of people with ALS the U.S. Food and Drug Administration has approved riluzole (Miller, Gelinas, & O’Connor, 2004). Also, other sources are working to find ways to control mitochondrial dysfunction that comes with muscle wasting in ALS. Vitamins C and E, glutathione, and coenzyme Q10 can also help with the mitochondrial defense strategy against the free oxygen radicals (Du & Yan, 2010). These are all normal components of muscle cells, but supplementing them to a person with ALS can help delay onset of symptoms. Vitamin E 1,000 mg/day and riluzole has shown to cause a slower progression of symptoms, and improvement in blood markers of oxidative stress (Miller, Gelinas, & O’Connor, 2004).

Specific symptoms can be treated, such as muscles stiffness, weakness, spasms, aches, and cramps, to help reduce discomforts that come with ALS. Patients should be given aid to prevent pressure and pain sores by having someone help with changing positions frequently. Physical activity with the muscles that have not been affected, and help with movement of the muscles that have already been affected, is very important to prevent deterioration from reasons other than ALS. Range of motion exercises should help minimize contractures due to muscle disuse, which will help to ease patient discomfort (Stopka & Todorovich, 2008). Being assisted with normal living patterns will be necessary, and adapted techniques - such as the use of computer technology to help with communication and eventually artificial breathing - will have to be used.

People with ALS not only need physical help, but they need to have activities in which interactive, social, and emotional abilities are being exercised. Patients with ALS may feel hopeless if there's a lack in treatment and having no cure; however, they usually have intact cognitive functioning. Having someone to communicate with, and to keep their attention moving and focused, can be very good. Many board games can still be played with assistance. Joining a group of other people who have ALS can help produce good emotions, high morale, and to keep communication flowing with others. The use of computer technology can also help with daily activities such as turning T.V., lights, and phone on and off, and to help with opening and closing of doors.

Having vigorous and intense exercise can harm a patient with ALS because their muscles are not going to be able to handle it. However, endurance exercise training increases the capacity of major antioxidant enzymes, reduces oxidative stress, and increases mitochondrial capacity in the muscle. So, regular exercise can help patients with ALS (Patel & Hamadeh, 2009).

Moving the muscles that are working, with small resistance exercises every day, can help the mitochondria keep functioning correctly. Exercises, such as rowing and fencing, can be done even if the legs are paralyzed. Exercise can also help protect the neurons by easing motor deficit, and inciting the formation of new nerve cells (Patel & Hamadeh, 2009). It has been found that regular, low, and moderate intensity exercise delays the onset of ALS; a resistance exercise program like pushing and pulling a block, or a bowling ball on the floor. The exercises can vary depending on the stage of ALS that a person is in. If they are still able to move their legs, walking and incremental bicycling should be done.

Having a secured spot where the person with ALS can move a bit, but not necessarily fall because of loss in muscle coordination and strength, is best when developing an exercise program. Low impact aerobic exercises are also key to strengthen unaffected muscles, improving the cardiovascular system, as well as helping the nervous system prevent depression. Equipment can help the patient do some exercises on their own. Walkers, braces, ramps, and wheelchairs can help the person with ALS move and keep doing activities as their muscles degrade slowly with the disease. Range of motion and stretching should always be done, and toward the later stages of ALS a person should stretch out their muscles even if they are not movable. Engaging in those types of movements, even if they are small like toe raises, butterflies, or neck stretches, can help maintain function and prolong ability as long as possible. This also prevents atrophy of the muscles because of disuse.

Unfortunately, much research is still needed to find a cure for ALS, as currently there is no cure. However, there are people who have lived for more than three years with ALS. Dr. Stephen Hawking is one of the most well known people alive who has ALS. He uses voice synthesizers, predictive text entry systems, and other computer technologies to still do his research on astrophysics, and to communicate with others as well as give conferences. Through incorporating physical activity, a person diagnosed with ALS can have a better outlook on life. Dr. Hawkings' survival for more than 40 years with ALS can definitely show that there is hope for people who are diagnosed with this condition.

references

Biography: Melissa Ortiz was born in Colombia on May 5, 1990, where she experienced great lessons of integrity and compassion. Her mother, Patricia Bedoya, saw better opportunities in the United States and they relocated there in 2000. Through hard work, and with an everlasting dedication to self-improvement, Melissa obtained a Bachelor of Science in Health Education & Behavior on August 2011 from the University of Florida.

Also, at UF within the College of Nursing, she worked in research on Promoting Mental Health among Latinos in Rural Areas. She is a co-author in the article entitled Promotoras in Mental Health: A Review of English, Spanish, and Portuguese Literature published in the Journal Family & Community Health (also PubMed.gov, International Nursing Library). Currently, she attends Edward Via College of Osteopathic Medicine – Carolinas Campus - as a first year student with aspirations of attending under-served and disadvantaged populations.

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