Disease
& Disorder: Amyotrophic Lateral Sclerosis (ALS)

Nazariel De Jesus

University of
Massachusetts Lowell

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            In this
paper I will be discussing Amyotrophic Lateral Sclerosis (ALS) also sometimes
referred to still as Lou Gehrig’s disease. This is a disease that I have been
personally affected by and watching someone go through this type of pain and
strife is heartbreaking and extremely tough. ALS is a degenerative, extremely
fatal, disease that affects the brain and muscles. This is an attack on the
nervous system, the disease attacks the nerves in your brain (neurons) and in
your spinal cord. Neurons transmit messages to your spinal cord and voluntary
muscles to help with movement. This disease affects a person’s ability to move
and to speak. You end up losing all your strength and with that you end up
losing your will to live. The disease affects more men than women between the
ages of 40 and 60, but it definitely can be prevalent earlier or even later. It
occurs globally and has no racial, ethnic or socioeconomic boundaries. It
affects as many as 30,000 in the United States and there are about 5,000 new
cases diagnosed each year. Estimates suggest that ALS is responsible for as
many as five of every 100,000 deaths in people aged 20 or older. All cases of
ALS have resulted in death, it is not a disease that has a cure.

HISTORY

            Amyotrophic
Lateral Sclerosis was first discovered by Jean-Martin Charcot during the 1870s.
Jean-Martin Charcot was a French neurologist and has been called “The Father of
Neurology” and was also able to explain way back when how the central nervous
system works with the limited technology of the time just by making personal
observations and writing down everything he saw. Lou Gehrig was the one who
engendered global attention to ALS in 1939. Lou Gehrig was a famous
baseball player who played for New York Yankees. “He was not playing well and knew
that something was physically wrong. Within a few months, Gehrig was diagnosed
with ALS. He died two years later. To this day, the disease is still most
closely associated with his name, often referred to as ‘Lou Gehrig’s Disease'”
(“Lou Gehrig and the History of ALS”,
2015). Another famous person who has been diagnosed with the disease is Stephen
Hawking. He has been able to live longer than anyone who has been diagnosed
with the disease. He was diagnosed with the disease at 21 and is 75 years old
today. He has been able to survive more than half a century with the fatal
disease, but still always remains on the brink of death. He is confined to his
wheelchair and has to talk through a special computer. Most people who are
diagnosed with the disease die in between 2 to 5 years of getting the disease.
“One thing that is highlighted by this man’s course is that this is an
incredibly variable disorder in many ways. On average people live two to three
years after diagnosis. But that means that half the people live longer, and
there are people who live for a long, long time” (Harmon, 2012). Unfortunately,
the percentage of people who do have a slow progressing form of ALS is less
than one percent.

ETIOLOGY

According to the Mayo Clinic, “ALS is inherited in 5 to 10 percent of cases, while the rest
have no known cause.” (Amyotrophic Lateral Sclerosis, 2017). Research into ALS
has caused medical researchers to look at some of the theories of possible
causes of ALS. The first being gene mutation. In which they see, “Various
genetic mutations can lead to inherited ALS, which causes nearly the same symptoms
as the noninherited form.” The second being chemical imbalance, and their
theory with this one is “People with ALS generally have higher than normal
levels of glutamate, a chemical messenger in the brain, around the nerve cells
in their spinal fluid.” Excessive amounts are known to be harmful to nerve
cells. The third thing researchers are looking at is a disorganized immune
response as being part of the cause saying, “Sometimes a person’s immune system
begins attacking some of his or her body’s own normal cells” this actually
leads to death of nerve cells. Researchers are also looking at protein
mishandling. According to the Mayo Clinic, “Mishandled proteins within the
nerve cells may lead to a gradual accumulation of abnormal forms of these
proteins in the cells, destroying the nerve cells.” (Amyotrophic Lateral Sclerosis,
2017). Some environmental factors might also be at play when talking about what
causes ALS. These factors include, smoking, environmental toxin exposure, even
though the cause of ALS cannot be driven down to a single chemical, and
military service.

SYMPTOMS

There are many early symptoms to ALS and they are all
progressive in the sense that with the disease and time a person has the
disease the symptoms only get progressively worse and worse. The early signs
and symptoms of ALS include difficulty walking/performing everyday activities,
tripping and falling, weakness in muscles such as your arms, hands, feet, and
legs, slurred speech and difficulty talking altogether, muscle cramps and
random uncontrollable twitching, and difficulty holding yourself up and keeping
good posture. “ALS often starts in the hands, feet or limbs, and then spreads
to other parts of your body. As the disease advances and nerve cells are
destroyed, your muscles progressively weaken. This eventually affects chewing,
swallowing, speaking and breathing. (Amyotrophic Lateral Sclerosis, 2017). The
disease ends in paralysis and when the muscles in the chest fail it leads to
respiratory failure which leads to death. This is how most people with the
disease die, from respiratory failure. Not all people with ALS experience the
same symptoms or same progression, but the progressive muscle weakness and the
extensive paralysis is prevalent across all people affected by ALS. The disease attacks solely the motor
neurons so the five senses are not affected. Excessive weight loss is also
experienced universally, even people who were athletes lose all their muscle
and are left with a frail weak body.

PROGNOSIS

All cases of ALS have resulted in death, no one has
successfully overcome the disease or have been cured. There is impairment to
motor neurons, which begin in the brain and results in muscle weakness and
muscle stiffness. The disease also damages motor neurons at the base of the
brain and spinal cord. Damage to these can cause muscle atrophy, which is
defined as the wasting away of muscles which goes in conjunction with the
severe weight loss. When the neurons in the brain are attacked, talking,
chewing, and swallowing become a lot more difficult.  When the motor
neurons in the spinal cord are harmed, movement is lost in the limbs, neck and
back obviously. This effects muscles you would normally be able to move on your
own, your voluntary muscles.

DIAGNOSIS

There is no specific test that can provide an actual
diagnosis for ALS. ALS is diagnosed based on the symptoms and your own account
of the history of your health observed by your doctor during your physical.
This is paired with a couple of tests to make sure you don’t have any other
types of diseases that have the same or similar symptoms. Your doctor will go
over your whole medical history with you and conduct some neurological tests to
test the symptoms such as muscle atrophy, weakness, and muscle stiffness to
check if they are getting progressively worse. To diagnose ALS a series of
tests must be used to rule out other diseases that have the same early
symptoms, these include muscle and imaging tests. These include EMGs, nerve
conduction studies, and MRIs. The EMG is “a special recording technique that
detects electrical activity of muscle fibers, can help diagnose ALS” the nerve
conduction study “measures electrical activity of the nerves and muscles by
assessing the nerve’s ability to send a signal along the nerve or to the
muscle. Specific abnormalities in the NCS and EMG may suggest, for example,
that the individual has a form of peripheral neuropathy (damage to peripheral
nerves outside of the brain and spinal cord) or myopathy (muscle disease)
rather than ALS” (Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017). You
can also get an MRI done to outline some things that may be causing your
symptoms other than ALS, like a spinal cord tumor, a herniated disk in the
neck, a cyst in the spinal cord, or abnormal wear affecting the spine in the
neck. Lab tests can also be done to rule out the possibility of other diseases.
Your doctor might call for some bloodwork and urine tests just to make sure you
don’t have anything else. The diseases that are generally being tested for are
HIV, leukemia, polio, and the West Nile Virus. These diseases cause ALS like
symptoms, and neurological disorders such as multiple sclerosis can also
imitate some of the symptoms of ALS. Other tests include spinal taps, in which
they extract and examine your spinal fluid, X-rays to see if your bones have
weakened, and muscle and nerve biopsies. “Because of the prognosis carried by
this diagnosis and the variety of diseases or disorders that can resemble ALS
in the early stages of the disease, individuals may wish to obtain a second
neurological opinion” (Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017).

TREATMENT

There is no cure for ALS but there are things that can be
done to help minimize the symptoms and maybe prolong life. There are also ways
to make living with the disease a little easier. First being a positive
attitude. Research has shown that those with a positive attitude of the disease
tend to live longer because of the psychological effects than those who give up
and lose their will to live. The best thing that can be done in the case of ALS
is just to make sure people are supported and comfortable. Right now there are
certain medications that can be used to help with the pain and symptoms. “The
U.S. Food and Drug Administration (FDA) has approved the drugs riluzole
(Rilutek) and edaravone (Radicava) to treat ALS. Riluzole is believed to
reduce damage to motor neurons by decreasing levels of glutamate, which
transports messages between nerve cells and motor neurons. Clinical trials in
people with ALS showed that riluzole prolongs survival by a few months,
particularly in the bulbar form of the disease, but does not reverse the
damage already done to motor neurons. Edaravone has been shown to slow
the decline in clinical assessment of daily functioning in persons with
ALS” (Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017). Doctors will also
prescribe anti-depressants and sleep stimulants. Another form of “treatment”
that is used and isn’t necessarily helpful is physical therapy. It does nothing
for the disease but physical therapy can help a person with ALS gain some
independence throughout the disease which in turns will boost their own morale.
“Gentle, low-impact aerobic exercise such as walking, swimming, and stationary
bicycling can strengthen unaffected muscles, improve cardiovascular health, and
help people fight fatigue and depression. Range of motion and stretching
exercises can help prevent painful spasticity and shortening (contracture) of
muscles.” (Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017). Another form
of “treatment” would be speech therapy. Since people with the disease find it
hard to speak, working with a speech therapist might help them communicate
better. “They can recommend aids such as computer-based speech synthesizers
that use eye-tracking technology and can help people develop ways for
responding to yes-or-no questions with their eyes or by other nonverbal means”
(Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017). Forms of treatment that
provide benefit are also nutritional aid and breathing support. People with ALS
get weaker as they lose weight and they find it difficult to swallow food, so
nutrition is important to help prepare meals that provide enough of what a
person with the disease needs while avoiding hard to swallow foods. “People may
begin using suction devices to remove excess fluids or saliva and prevent
choking. When individuals can no longer get enough nourishment from eating,
doctors may advise inserting a feeding tube into the stomach. The use of a
feeding tube also reduces the risk of choking and pneumonia that can result
from inhaling liquids into the lungs” (Amyotrophic Lateral Sclerosis (ALS) Fact
Sheet, 2017). Breathing support is essential in all patients with ALS. With the
muscle atrophy, the muscles that aid in breathing begin to become weak. There
is extreme shortness of breath early on and it is hard to breathe when lying
down. “Doctors may test an individual’s breathing to determine when to
recommend a treatment called noninvasive ventilation (NIV). NIV refers to
breathing support that is usually delivered through a mask over the nose and/or
mouth. Initially, NIV may only be necessary at night. When muscles are no
longer able to maintain normal oxygen and carbon dioxide levels, NIV may be
used full-time. NIV improves the quality of life and prolongs survival for many
people with ALS” (Amyotrophic Lateral Sclerosis (ALS) Fact Sheet, 2017).  All these forms of treatment become very
costly and in the end some people find it not even worth it if it ends in death
anyways, but others are willing to fight until their last breath and for them
every bit is worth it if it means they get to spend more time on this earth.

CURRENT DIRECTIONS IN RESEARCH

Current research is being done primarily by the National
Institute of Neurological Disorders and Stroke (NINDS). Their primary mission
being to learn anything they can about the nervous system to help with the
burden of neurological diseases. NINDS is part of the National Institutes of
Health (NIH) which is conducting the leading biomedical research. Current
research is looking at cellular defects. “Scientists are seeking to understand
the mechanisms that selectively trigger motor neurons to degenerate in ALS, and
to find effective approaches to halt the processes leading to cell death”. This
is being done by looking at animal and human cell structures, they are trying
to find out why ALS-causing gene mutations end up in the destruction and death
of neurons. “Research in these models suggests that, depending on the gene
mutation, motor neuron death is caused by a variety of cellular defects,
including in the processing of RNA molecules and recycling of proteins, and
structural impairments of motor neurons. Increasing evidence also suggests that
various types of glial support cells and inflammation cells of the nervous
system may play an important role in the disease. (Amyotrophic Lateral
Sclerosis (ALS) Fact Sheet, 2017). 
Research is also looking at stem cells by taking blood cells or skin
from people with the disease and turning them into stem cells. Current research
is also looking at biomarkers to help diagnose ALS earlier, and they are also
looking at new treatment options. Treatment options include developing new
medications and therapy options for the genes and the cells. “For example,
NINDS-supported scientists are currently investigating whether lowering levels
of the SOD1 enzyme in the brain and spinal cord of individuals with SOD1 gene
mutations would slow the rate of disease progression.” (Amyotrophic Lateral
Sclerosis (ALS) Fact Sheet, 2017). 

REFLECTION/CONCLUSION

            ALS has personally affected me and I
never really did much research on it before, but after conducting research and
learning more about the disease I see it in a new light. My best friend’s dad was
diagnosed with ALS and he passed away about 2 years ago and it was the hardest
thing that I had to watch her go through and it was even harder watching her
dad go through it. He was diagnosed with the disease only about 5 years ago and
you honestly wouldn’t even be able to tell from the start of it. It was so
unfair, he was so healthy. He ate right and exercised constantly, so for him to
be what it seemed like punished with this disease did not seem right. He still
lived his life with joy and kept his head high. He was extremely prideful and
never asked for any help, even when he couldn’t even stand. He found a way to
say what he wanted, he found a way to eat what he wanted, and he found a way to
get to where he wanted to until the paralysis was so bad he couldn’t even raise
his arms. He lost a significant amount of weight and ended up being bed ridden.
He never left the room but enjoyed visitors. There were always people in and
out, every second of everyday. But every day, he still smiled the same he still
said hi the same, and he kept fighting. He wanted to see his daughter graduate
high school and he did. He was able to see her go to prom, get her first car,
and even get accepted into college. I tried to be there as much as I could for
my friend and in turn I ended up experiencing a lot of the pain and suffering
the family had to go through to take care of him and watch him basically die in
front of them. Her dad waited until last minute of everything to get all the
different types of treatment options. He didn’t get a ramp put outside until he
couldn’t walk anymore, he didn’t get one of the special beds until he couldn’t
sit up anymore, he didn’t even get a wheelchair until it was too hard for him
to walk. He never had an in-home nurse and he was never sent to hospice care.
When the time came, I was there. We were all there and it happened so
peacefully as many other have described their own experience about loved ones.
It was like he knew though, he told every one of us he loved us the night
before and then he fell asleep. When morning came, he just didn’t wake up.
After writing this paper and conducting the research I see just how strong my
friend’s father was. Exactly what he had to go through, what the kind of things
that were happening in his body and his mind. He never gave up his will to live
though, and that I will cherish forever.

 

 

 

 

 

 

 

References

Amyotrophic
lateral sclerosis. (2017, May 12). Retrieved November 25, 2017, from

https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022

Amyotrophic
Lateral Sclerosis (ALS) Fact Sheet. (n.d.). Retrieved November 25, 2017, from

            https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-

            Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet

Harmon, K.
(2012, January 07). How Has Stephen Hawking Lived Past 70 with ALS? Retrieved

            November 25, 2017, from https://www.scientificamerican.com/article/stephen-hawking-

            als/

Lou Gehrig and
the History of ALS. (2015). Retrieved November 25, 2017, from

            http://www.alstexas.org/understanding-als/lou-gehrig/

 

 

 

 

 

 

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