AMYOTROPHIC LATERAL SCLEROSIS (ALS)

A research article by Rachana R

Introduction
Amyotrophic Lateral Sclerosis (ALS), also known as Motor neurone disease [MND] or Lou
Gehrig’s disease is a neurodegenerative disease affecting primarily the motor system, but in
which extra‐motor manifestations are increasingly recognized. The loss of upper and lower
motor neurons in the motor cortex, the brainstem nuclei and the anterior horn of the spinal cord
gives rise to progressive muscle weakness and wasting.

Eventually, in people with ALS, the brain loses its ability to initiate and control voluntary
movements such as walking, talking, chewing and other functions, as well as breathing. ALS is
progressive, meaning the symptoms get worse over time. ALS is the most common form of
motor neuron diseases. 15% of people with ALS also fully develop frontotemporal dementia.
This is also considered as an idiopathic disease, as it has no known cause.

‘Amyotrophic’ comes from the Greek language. ‘A’ means no. ‘Myo’ refers to the muscle.
‘Trophic’ means nourishment. So, amyotrophic means ‘no muscle nourishment’ and when a
muscle has no nourishment, it ‘atrophies’ or wastes away. ‘Lateral’ identifies the areas in a
person's spinal cord where portions of the nerve cells that signal and control the muscles are
located. As this area degenerates, it leads to scarring or hardening (sclerosis) in the region.

Discovery
French neurologist Jean Martin Charcot discovered ALS in 1869. While ALS can affect anyone,
there are two different ways cases are recognised:
● For about 90% to 95% cases, there is no known cause, and are known as SPORADIC
ALS.
● For about 5% to 10% cases, there is a genetic cause, and are known as FAMILIAL ALS
(hereditary).

Risk Factors
Having a risk factor doesn’t mean a person doesn’t mean a person will develop a disorder, but
that also doesn’t mean a person without a risk factor won’t develop a disorder. Risk factors of
ALS are:

● Age - Although the disease can strike at any age, symptoms most commonly develop
between the ages of 55 and 75.
 ● Biological sex - Men are slightly more likely to develop ALS than women. However, at
older ages, men and women are equally likely to be diagnosed with ALS.
● Race and ethnicity - Whites and non-Hispanics are most likely to develop the disease,
but ALS affects people of all races and ethnic backgrounds.

Some studies suggest military veterans are about one and a half to two times more likely to
develop ALS, although the reason for this is unclear. Possible risk factors for veterans include
exposure to lead, pesticides, and other environmental toxins. Some studies have also shown
that head injury can be associated with higher risk for ALS, but more research is needed to
understand this connection.

Symptoms

Symptoms of ALS differ for every individual. This mostly depends on which nerve cells are
affected. The disorder causes muscle weakness, atrophy, and muscle spasms throughout the
body due to the degeneration of the upper motor and lower motor neurons. Sensory nerves and
the autonomic nervous system are generally unaffected, meaning the majority of people with
ALS maintain hearing, sight, touch, smell, and taste.

Initial Symptoms
The start of ALS may be so subtle that the symptoms are overlooked. The earliest symptoms of
ALS are muscle weakness or muscle atrophy, typically on one side of the body. Other
presenting symptoms include trouble swallowing or breathing, cramping, or stiffness of affected
muscles; muscle weakness affecting an arm or a leg; or slurred and nasal speech. The parts of
the body affected by early symptoms of ALS depend on which motor neurons in the body are
damaged first.

Progression
Although the initial site of symptoms and subsequent rate of disability progression vary from
person to person, the initially affected body region is usually the most affected over time, and
the symptoms usually spread to a neighboring body region.For example, symptoms starting in
one arm usually spread next to either the opposite arm or to the same leg.The rate of
progression can be measured using the ALS Functional Rating Scale-Revised (ALSFRS-R), a
12-item instrument survey administered as a clinical interview or self-reported questionnaire that
produces a score between 48 (normal function) and 0 (severe disability). The ALSFRS-R is the
most frequently used outcome measure for clinical trials and is used by doctors to track disease
progression.

Later Stage Disease Management

Dysphagia increases the risk of aspirating food into the lungs. In later stages of the disorder,
aspiration pneumonia and locked-in syndrome can develop. Despite these challenges, many
people in an advanced state of this disease report satisfactory wellbeing and quality of life.
Diagnosis and Treatment
There is no single test that can definitely diagnose ALS. A healthcare provider will conduct a
physical exam and review the person’s full medical history. However , tests like MRI, EMG and
NCS can be conducted to diagnose this disorder.

No treatment can be done to reverse damage to motor neurons or cure ALS at this time.
Riluzole (Rilutek), Edaravone (Radicava) and Tofersen (Alsody) are a few medications FDA
certified and prescribed by the doctor to reduce the complications and symptoms.

Over the last years, the first steps in the direction of a precision medicine approach for ALS
have been taken. For several genetic subtypes of ALS, therapies that target the upstream
genetic cause are being developed. Stem cell treatments, such as granulocyte‐colony
stimulating factor‐induced peripheral blood stem cells, bone marrow mesenchymal stem cells,
non‐neural progenitor cells have been proved to be safe and well tolerated; however, the effects
on disease progression are not yet known. Several phase II and III clinical trials are ongoing.

Conclusion
In conclusion, there is hope that a better categorization of cases based on pathogenic
mechanisms will allow for targeted therapies with beneficial effects in selected ALS subgroups
and that ALS will become a treatable condition in the future. Advancement in research and
technology will aid in better treatment for patients and help them live a healthy life.

Sources/References
● “ALS.” Wikipedia, 9 Jan. 2023,
en.wikipedia.org/wiki/ALS.

● ‌ ational Institute of Neurological Disorders and Stroke. “Amyotrophic Lateral Sclerosis

N
(ALS).” www.ninds.nih.gov, 8 Mar. 2023,
www.ninds.nih.gov/health-information/disorders/amyotrophic-lateral-sclerosis-als.
● Mayo Clinic. “Amyotrophic Lateral Sclerosis (ALS) - Symptoms and Causes.” Mayo
Clinic, Mayo Clinic, 6 Aug. 2019, www.mayoclinic.org/diseases-conditions/amyotrophic-
lateral-sclerosis/symptoms-causes/syc-20354022 .
● ‌Masrori, P., and P. Van Damme. “Amyotrophic Lateral Sclerosis: A Clinical Review.”
European Journal of Neurology, vol. 27, no. 10, 7 July 2020, pp. 1918–1929,
https://doi.org/10.1111/ene.14393.
● The ALS Association. “What Is ALS?” The ALS Association, The ALS Association, 26
Apr. 2021, www.als.org/understanding-als/what-is-als.