INDEX

S.no. Topic Page No.

1. Acknowledgement 1
2. Introduction 2
3. What is ALS? 3
4. Causes and Risk Factors 4
5. Symptoms 5
6. Diagnosis 6
7. Treatment 7
8. Recent Research and Developments 8
9. Case Study 9
10. Conclusion 11
11. Bibliography 12
 ACKNOWLEDGEMENTS

I would like to express my sincere gratitude to everyone who has supported and
guided me throughout the completion of this project.

I would like to express my deepest gratitude to my Biology teacher, Ms.

Manaswini Rath, her constant support and guidance throughout this project. Her
expertise and advice helped me overcome challenges and complete this work
successfully.

My thanks also go to my friends and classmates, whose encouragement and

collaboration played a significant role in the success of this project.

Lastly, I wish to sincerely thank our Principal, Dr. Manila Carvalho, Vice
Principal, Ms. Preeti Soota, and my school, Delhi Public School Bangalore East
for providing the necessary resources and environment that made the
completion of this project possible.

Thank you all for your unwavering support and for helping me to complete this
project.

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 INTRODUCTION

Amyotrophic Lateral Sclerosis or ALS is a progressively disabling disease

found to affect the nerves of the nervous system, especially the motor neurons
in the body. As these motor neurons are relatively responsible for transferring
messages from the brain to the muscles to enable walking, speaking, and
breathing, their slow degeneration and destruction gradually lead to the reduced
function of the muscles, medically termed as atrophy.

Although it eventually leads to severe decline of the human physique, ALS

exacts an equally profound emotional and psychological cost on patients and
their families. The course of disease progression varies for each person afflicted
with ALS; nevertheless, the hallmark is progressive impairment of movement
and communication, often forcing patients onto supportive devices. ALS
significantly impacts the individual experiencing the disease and indeed the
family members, caregivers, and communities affected by it.

In sum, as a disease, ALS is an important area of research in neuroscience

because researchers continue to investigate its causes and potential treatments.
The devastating effects of ALS have contributed to inspiring global awareness
efforts and raises a huge amount of fundraising; the famous Ice Bucket
Challenge was one of these. There is still no cure, but the understanding of ALS
can bring hope for better treatments and, in the future, a cure.

In this report, we will be understanding what ALS is, it’s causes, symptoms,
diagnosis, treatment options and recent developments. We will also understand
it’s real-life impact by looking at the case study of a person affected by ALS.

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 WHAT IS ALS?

Amyotrophic Lateral Sclerosis (ALS), also called Lou Gehrig's Disease, can be
defined as a progressive neurodegenerative disease that affects the human body's
motor neurons. Motor neurons are specialized nerve cells that play the primary
role of transmitting signals from the brain to the spinal cord, which will
eventually be transmitted to the muscles. These signals are essential for the proper
performance of all forms of voluntary actions such as walking, speaking,
chewing, swallowing, and breathing.

In ALS, the motor neurons start to degenerate and die. Consequently, there is a
complete breakdown of communication between the brain and the target muscles.
The muscles will gradually weaken to atrophy as they have lost their signals. This
condition brings about extreme disabilities where the patient becomes
increasingly incapable of performing even the smallest tasks as time progresses.
ALS is indeed an irregularly progressive disease. Such degeneration from
muscles makes a person with ALS unable to walk or communicate, eat, or even
breathe alone.

There are two main types of motor neurons: upper motor neurons and lower motor
neurons. Upper motor neurons are located in the brain and send signals down to
the spinal cord, where lower motor neurons then carry the signals to the muscles.
In ALS, both types of neurons are affected. The brain can no longer send signals
to the muscles, leading to the gradual loss of muscle function and control.

Even though ALS primarily involves muscle functions, it rarely affects a person's
cognitive powers. People with ALS, on the whole, tend to maintain their
intelligence, memory, and personality even as their physical strength declines.

Types of ALS:

There are two types of ALS:

1. Sporadic ALS: The most common type, occurring randomly without any
clear cause. It affects 95% of ALS patients.
2. Familial ALS (FALS): This type runs in families and is caused by inherited
genetic mutations. It affects 5-10% of ALS patients, with a 50% chance of
passing the gene to offspring.

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 CAUSES AND RISK FACTORS

The exact cause of ALS remains largely unknown, particularly for sporadic ALS,
which is the most common form of the disease. Sporadic ALS is considered an
idiopathic disease, meaning it has no clear origin. However, both genetic and
environmental factors are believed to play significant roles in the development of
ALS.

Genetic Factors:

Around 5-10% of ALS cases are familial, meaning they run in families. These
cases are caused by inherited genetic mutations, the most common being in the
SOD1 gene. These gene changes can produce harmful proteins that damage motor
neurons. In some cases of sporadic ALS, people can have these mutations even if
they don’t have a family history of the disease. This suggests that genetic factors
can also play a role in non-inherited cases.

Environmental Factors:

While there is no single environmental cause of ALS, exposure to certain

chemicals or toxins may increase the risk. People who work with pesticides or
heavy metals may be more likely to develop ALS. Additionally, viral infections
or other environmental triggers might contribute to the disease, but more research
is needed to confirm this.

Other Possible Causes:

 Glutamate: ALS may cause a build-up of glutamate, a chemical that sends

signals between nerve cells. When glutamate accumulates too much, it
can damage motor neurons.
 Immune System: The immune cells in the brain, called microglia, are
supposed to protect the body by clearing out damaged cells. In ALS,
these cells may mistakenly attack healthy motor neurons.
 Mitochondrial Problems: Mitochondria provide energy for cells. If they
don’t work properly, it can lead to problems with motor neurons.
 Oxidative Stress: Free radicals, which are by-products of normal cell
processes, can damage cells and are believed to play a role in ALS.

Age and gender are also risk factors. ALS most commonly affects people aged
40-70, and men are slightly more likely to develop it than women.

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 SYMPTOMS

ALS develops gradually and presents a wide variety of symptoms. Early signs
can be subtle, making it difficult to diagnose, and they usually affect individuals
aged 40-60. ALS affects the voluntary muscles, the ones we use to walk, talk,
move, and perform everyday tasks.

Early Symptoms:

The first signs of ALS may include:

 Muscle twitching in the arm, leg, shoulder, or tongue

 Muscle cramps or stiffness, particularly in the hands and feet
 Weakness in the hands, arms, or legs
 Difficulty speaking, often with slurred speech or softer talking
 Problems chewing or swallowing food

These symptoms can vary, depending on which muscles are affected first.
Approximately 75% of people with ALS experience limb onset, where
symptoms begin in the arms or legs. For some, this means difficulty walking or
tripping more often, while others may struggle with tasks requiring fine motor
skills, such as buttoning a shirt or writing.

In about 25% of cases, ALS begins with bulbar onset, affecting speech and
swallowing first. Speech may become slurred or nasal, and difficulty
swallowing follows. Eventually, patients lose the ability to speak and manage
their airway while swallowing.

Progression of Symptoms:

As the disease progresses, ALS leads to:

 Increased difficulty walking, standing, or getting in and out of bed

 Inability to control facial expressions
 Loss of fine motor skills, such as dropping objects or tripping more often
 Weight loss, excessive drooling, and choking on liquids
 Severe fatigue and difficulty breathing without assistance

In rare cases, ALS can also affect memory and behaviour. Though the disease is
primarily physical, it can cause emotional changes, like laughing or crying
without control.

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 DIAGNOSIS

Diagnosing ALS can be challenging because its symptoms are similar to those
of other conditions. Doctors use a combination of physical exams, medical
history, and tests to rule out other possible causes and confirm ALS.

Steps in Diagnosis:

1. Physical and Neurological Exam: The doctor will check your muscle
strength, reflexes, and coordination to spot signs of weakness or stiffness,
which are common in ALS.
2. Electromyography (EMG): This test checks the electrical activity in your
muscles. If you have ALS, your muscles won’t respond as they should. It
helps doctors see if ALS is the cause or if another muscle disease is
responsible.
3. Nerve Conduction Velocity (NCV): This test measures how well signals
move through your nerves. It can show if you have nerve damage or
another condition, which helps doctors rule out ALS or confirm it.
4. Magnetic Resonance Imaging (MRI): An MRI looks at your brain and
spinal cord. While it’s usually normal for people with ALS, it helps
doctors rule out other conditions like spinal tumours, multiple sclerosis,
or herniated discs that could be causing similar symptoms.
5. Blood and Urine Tests: These tests check for other diseases that could
cause similar symptoms. In some cases, a muscle biopsy may be done,
where a small piece of muscle is taken for testing to help identify if
another muscle disease is present.

Excluding Other Conditions:

ALS symptoms can also be caused by other conditions like multiple sclerosis,
Lyme disease, or myasthenia gravis. Doctors will use the above tests to rule out
these diseases, making sure the diagnosis is correct. As ALS progresses, it
becomes easier to tell it apart from other conditions, but early diagnosis can be
tricky due to the overlap of symptoms.

By using these tests and methods, doctors can confirm whether you have ALS
and begin planning the best course of care.

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 TREATMENT

While there is no cure for ALS, treatments can help slow its progression,
manage symptoms, and improve quality of life. Doctors and a team of health
professionals work together to create a personalized care plan.

Medications to Treat ALS:

1. Riluzole:

 The first FDA-approved drug for ALS.

 It helps protect motor neurons from damage.
 It can extend survival by a few months, especially for those with
trouble swallowing.
 It slows the need for breathing support like a ventilator.

2. Edaravone (Radicava):

 Administered through an IV or as a pill.

 It may improve daily functioning, though its impact on survival is
unclear.

3. Symptom Management Drugs:

 Medications are administered to manage specific symptoms, such

as muscle cramps or spasms, excess salivation or mucus,
constipation, fatigue, pain, sleep difficulties and depression.
 For pseudobulbar affect (PBA), which causes sudden episodes of
laughing or crying, doctors can prescribe specific treatments.

Other Supportive Treatments:

Other supportive treatments for ALS include physical therapy to maintain

mobility, occupational therapy to adapt daily activities, speech therapy for
communication challenges, and respiratory support like ventilators as breathing
becomes difficult.

Managing ALS:

ALS treatment focuses on improving comfort and independence for as long as

possible. Early diagnosis and working closely with healthcare professionals can
make a significant difference in managing the condition. Regular follow-ups
ensure that treatment adapts to the patient's needs.

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 RECENT RESEARCH AND DEVELOPMENTS

Recent advancements in ALS research have significantly improved our

understanding of its causes and potential treatments. Key developments include:
Genetic studies: Following their discovery of the SOD1 gene in
1993, more than 30 ALS-related genes have been found, including:

 TARDBP: Linked to both familial and sporadic ALS cases.

 C9orf72: Associated with familial ALS and frontotemporal dementia,
highlighting shared mechanisms between ALS and other neurological
disorders.
 MATR3, FUS, and CHCHD10: Implicate RNA processing and
mitochondrial dysfunction in disease progression.

Environmental Factors:

Studies suggest potential links between ALS and head injuries, diet, exercise, and
even cholesterol levels, with higher cholesterol potentially reducing ALS risk.
Such results might spawn new prospects for disease prevention.

Clinical Management Advances:

Medications like riluzole and edaravone aim to slow disease progression.

Advanced imaging methods, like diffusion tensor imaging, help track ALS
progression and tell it apart from similar conditions.

Care models that use teams of different specialists are showing success in making
patients’ lives better.

New Therapies:

Research on antisense oligonucleotides focuses on genetic mutations like

SOD1, which may lead to treatments for familial ALS. This method tackles the
main causes of ALS instead of only dealing with the symptoms. All these
innovations lead towards better diagnostics, better care of the patients, and
brighter hopes for new treatments; hence the people suffering from ALS feel
hopeful.

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 CASE STUDY

Fred Shank’s ALS journey began with a seemingly minor symptom: a drop in
his left foot, which caused him to trip and struggle with simple tasks like
keeping flip-flops on his feet. Although Fred was physically active and in great
shape—playing tennis regularly and using Peloton—he began to experience
difficulty accelerating to reach shots in tennis. At first, he dismissed these signs
as the result of aging or fatigue.

However, the drop foot symptom prompted him to visit a sports medicine
doctor. After an MRI and X-rays, a herniated disc in his back was initially
suspected to be the cause. The EMG tests confirmed nerve disruption from the
disc, and he underwent spinal fusion surgery in an attempt to resolve the issue.
But two months later, his symptoms worsened, with his right leg now showing
signs of nerve damage. He opted for a full spinal fusion surgery to address the
herniated disc affecting both legs, but his condition failed to improve.

Realizing that something more serious might be at play, Fred visited a

neurologist, who conducted another EMG test. The neurologist's concern grew
as she noticed abnormalities in the tests, particularly in his legs and lower back.
She recommended further tests on his upper body and neck and scheduled a
follow-up appointment, but the wait was nearly a month long. When Fred
returned, the neurologist confirmed the diagnosis of motor neuron disease
(MND), with ALS being a possibility. Fred then took a genetic test for ALS,
and the neurologist referred him to an ALS clinic.

Seeking a second opinion, Fred went to the renowned ALS Clinic at Johns
Hopkins, where specialists reviewed his test results, conducted a full blood
screen, and performed a clinical exam. The doctors at Johns Hopkins confirmed
that it was highly probable he had ALS, and they recommended starting
treatment immediately. Although ALS diagnosis often takes several months due
to the need to rule out other conditions, the clinic didn’t see any reason to delay
treatment.

Fred’s experience highlights the challenges of getting an ALS diagnosis, as

doctors must rule out various conditions before confirming it. The process can
be slow, and finding a specialist with experience in ALS is not always easy,
leading to frustrating delays.

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Fred’s advice for others facing similar challenges is to be kind to themselves.
Navigating an ALS diagnosis is overwhelming, and there’s no “right” way to
feel. His journey underscores the importance of early intervention, seeking
expert care, and being patient with oneself during such a difficult process.

This case study offers valuable insight into the personal and medical
complexities of ALS diagnosis, especially in the early stages, when symptoms
are often subtle and can be attributed to other conditions.

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 CONCLUSION

Amyotrophic Lateral Sclerosis (ALS) is a progressive and incurable

neurodegenerative disease that affects motor neurons, leading to muscle
weakness, loss of function, and eventually paralysis. While research into its
causes continues, genetic factors such as mutations in SOD1 and C9orf72 play a
significant role in both familial and sporadic cases. Despite advances in
understanding ALS, treatment options remain limited, primarily focused on
slowing disease progression and managing symptoms rather than providing a
cure.

The emotional and physical toll on individuals with ALS is profound. As the
disease progresses, it strips away a person’s independence, causing difficulty in
performing daily tasks and communicating. ALS not only impacts the
individual but also the loved ones who care for them. Early diagnosis and
intervention are critical, yet challenges persist, as many symptoms overlap with
other conditions, leading to delayed or incorrect diagnoses, as highlighted in
Fred Shank’s case.

Fred’s story underscores the emotional resilience and perseverance required to

navigate ALS. His diagnosis journey exemplifies the frustrations of waiting for
accurate tests and finding the right medical expertise. While ALS remains a life-
altering disease with no cure, advancements in research, better diagnostic tools,
and a more comprehensive approach to patient care continue to improve quality
of life and provide hope for future breakthroughs.

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 BIBLIOGRAPHY

https://en.wikipedia.org/wiki/ALS

https://simple.wikipedia.org/wiki/Motor_neurone_disease

https://www.webmd.com/brain/understanding-als-basics

https://www.als.org/understanding-als/what-is-als

https://pmc.ncbi.nlm.nih.gov/articles/PMC4893385/pdf/415_2016_Article_809
1.pdf

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