Sample Research Paper on Pathophysiology on the disease ALS


Amyotrophic lateral sclerosis (ALS) is one of the neurological diseases which are rarely
found. For example, among a thousand individuals only two might have this disorder (Riederer,
Kopp and Pearson, 2012).  The disease involves the neurons mainly the motor neurons. Neurons
aids in the transmission of impulse from the central nervous system to the rest of the muscles in
the body: that is why the neurons are known as the controller of voluntary muscle movement.
The disease is symptomatic and the symptoms worsens with time, some of the symptoms entails;
difficulty in walking, breathing, and eating among others. The symptoms are evident when
someone has already have muscle weaknesses or stiffness. Therefore ALS is a serious disorder
and anybody who is affected normally dies from the respiratory failure after some time.

Description of the pathology

Amyotrophic Lateral Sclerosis (ALS) disease is a serious disorder that leads to loss in
functionality of the motor neurons and finally leads to loss of these neurons. The whole process
of the loss of these motor nerves takes place mainly in the anterior horns and the motor nuclei of
the brain (Riederer, Kopp and Pearson, 2012).In the anterior horns, the process may alter the cell
bodies of the alpha motor neurons hence resulting to malfunction of the motor nerves. Also, in
the motor nuclei the skeletal muscles in the brain and back dorsal may be affected since the
named nuclei connects to other nerves in the central nervous system.
ALS results when the upper and the lower motor neurons loss away and die: this activates
the reactive gliosis to replace the death neurons (Honn and Zeldin, 2019). As a result, the electric
impulse is never realized in the body system. Therefore, as the motor neurons degenerates the

axons are affected for example, their Myelin sheath begin to degenerate causing nonspecific
reaction to the glial cells(gliosis).The named changes mainly affect the nervous
system(Brainstem and spinal cord) (Gilman,2016).Therefore, ALS disease affects the motor
neurons in the spinal cord and in the brainstem.
Additionally, the study of the dead tissues(Autopsy)of the ALS patients normally
portrays the loss of motor neurons and the severe damage to the lower motor neurons together
(Wainger, n.d.) Also, due to the loss of myelin sheath in the motor nerves the ventral roots of the
nerves becomes thin and weaker due to loss of nerves(denervation). However there is always
evidence of additional nerve (reinnervation) in the affected muscles. Moreover, this disease is
associated with Frontal temporal dementia (FTD-ALS) which results from a disorder that causes
neurons to degenerate.FTD sometimes brings about confusion in the diagnosis of ALS as the
physiologists may come out with the same findings for both of the two diseases.
Normal anatomy of the major body system affected

ALS disease leads to death of the motor nerves mainly in the brain and spinal cord.
However, since the motor neurons controls the muscle movement as well, malfunctions of the
muscles occur when they die. The muscle loss makes the movement of the body so difficult and
the patient automatically loss the ability to speak, walk, breath and swallow (Gilman, 2016).All
these results when the body does not receive signal from the brain for a very long time. So, when
the muscles become redundant they tend to grow thin and weaker.
Therefore, the disease damages the motor neurons in the brain and spinal cord (Hurley, n.d). So,
when the motor neurons are damaged, they are unable to send impulses that control the muscle

movement in the body. In this case, the upper motor neuron sends impulses from the brain to the
spinal cord while the lower motor neurons from the spinal cord to the muscles.
Normal pathology of the body system affected

ALS makes the muscles to loss their nourishment so that they become weaker and
smaller. The muscles lack nourishment when the disease affects the sides of the spinal cord
hence denaturing the nerves that nourish the muscles (Gilman, 2016). Therefore, the hardening
(sclerosis) of the affected part of the spinal cord occurs. Consequently, the disease causes the
loss of the motor neurons as it causes severe damage to the lower motor neuron. As a result, the
motor nerves losses their myelin sheath and the nerves becomes smaller and weaker hence
unable to carry impulses to the spinal cord and the rest of the muscles in the body system.

Mechanism of pathology

Motor neurons functions well when they are not altered however, the presence of the
following disorders leads to the malfunction of these neurons; mitochondria abnormalities,
Excitotoxicity and axon transport abnormalities (Riederer, Kopp and Pearson, 2012).Among
Mitochondria abnormalities
Mitochondria are the main source of energy for the nerves and muscles, they provide
energy in form of ardenosinetryphosphate (ATP).In this category, they maintain calcium
homeostasis for the neuron ( Agostinis and Samali, 2012). . Therefore the malfunction of
mitochondria may expose the motor neuron to more damage
Glutamate Excitotoxicity

Glutamate is the main neurotransmitter in the mammalian central nervous system (CNS)
(Riederer, Kopp and Pearson, 2012). However, high concentration of glutamate denatures the
functions of the motor neuron since it becomes toxic. As a result, the named neurons waste away
and die with time.
Axon transport abnormalities
Axons transmit impulses between the cell body and the terminal axons so, it is import
organ in neuronal development, survival, shape and function (Hurley, n.d.) During the process of
impulse transmission, axon uses energy from the mitochondria. Therefore, the malfunction of the
axon in this case leads to the abnormal renewal of mitochondria in the motor axons leading to
accumulation of mitochondria and deficiency in energy transfer hence death of the neurons.


ALS has no well defined ways of prevention. Even for that, the persons affected can undergo
clinical trials and participate in national ALS registry and the national ALS Biorepository
(Bromberg, 2017).So; such participations can help the researchers carry out keen studies to find
out the possible ways of preventing this disease and the risk factors. Also, the multidisciplinary
clinics give their best care to the patients affected by the diseases. Additionally, clinics may
improve the life span of people living with the disease.

According to Gilman (2016), the drug riluzole and edaravone has been found to treat and
reduce damage to the motor neurons. The drugs reduce damage to the motor neurons by

decreasing the level of glutamate which is a chemical substance meant for transporting
information between nerve cells and motor neurons
Physical therapy
Aerobic exercises are recommended for patients with ALS disease. The aerobic exercises
include; walking, swimming and cycling strengthens the unaffected muscles, improve the cardiac
vessels health, and fight depression and fatigue. Also such exercises prevent the weakening and
shortening of the muscles. Additionally an occupational therapist normally recommends the use
of devices such as ramps, braces and wheelchairs among others
Treatment can also be done by offering speech therapy for those patients who have
difficulty speaking. Nutritional therapy is provided to the care givers so that they understand the
type of foods that can give enough therapy to the patients. Breathing support is given to the
patients with breathing difficulties; this help in maintaining their health and enabling them to
stay safe always.


Lastly, amyotrophic lateral sclerosis (ALS) is one of the neurological diseases that affects
people nowadays. The disease affects the motor neurons making them weaker and thin just as
discussed above. As a result, the neurons cannot perform their normal function of transmitting
impulses from the brain to the rest of the body muscles. The symptom entails difficulty in
breathing, locomotion, eating and speaking among others. Nevertheless, it can be treated through
several means namely; administering medication, physical therapy, nutritional therapy and
offering breathing support among others. Also the disease can be prevented through clinical trials
and participate in national ALS registry to help the scholars research ways of preventing this

disease. Therefore, ALS is a serious disease and several prevention measures should be
implemented to help in curbing it properly.



Bromberg, M. (2017). Motor unit number estimation (MUNE). Amsterdam: Elsevier.
Gilman, S. (2016). Neurobiology of disease. Burlington, Mass.: Elsevier Academic Press.
Honn, K., & Zeldin, D. (2019). The Role of Bioactive Lipids in Cancer, Inflammation and
Related Diseases. Cham: Springer International Publishing.

Hurley, M. Omic studies of neurodegenerative disease.

Riederer, P., Kopp, N., & Pearson, J. (2012). An Introduction to neurotransmission in health and

disease. Oxford: Oxford University Press.

Agostinis, P., & Samali, A. (2012). Endoplasmic reticulum stress in health and disease.

Dordrecht: Springer.

Wainger, B. Stem Cell-Based Modeling in Pain and ALS.