By Nan S.
Introduction
This article will discuss the causes, symptoms, and
treatment for Lou Gehrig ’s disease and how it is very difficult to diagnose
it. There is no known cure it as of yet.
There are also not any sizable clues to exactly what the cause is. One to three people per 100,000 get this
disease. The disease affects the muscles
that are used for movement, eating, speaking, and breathing. It eventually results in death. There are certain risk factors that will be
discussed. Prognosis and treatments now
being used in the United States will also be mentioned. There are people with Lou Gehrig’s disease
who live a lot longer than just five years.
It has been known that some people live 10 years or further. It is very vital that people with this
disease do not lose hope. There are also
many support groups out there that victims and families can join to talk to
others that are going through the same thing.
Every single day, more and more technology is being developed and
someday there will be a cure.
Origin of the name of
the disease/disorder
Lou Gehrig’s disease was named after the 1930’s famous
baseball player who was inflicted with the disease. The medical title of the illness is
Amyotrophic Lateral Sclerosis. A myo means muscle and trophy means nourishment. The word comes from the Greek language. Since the A in the word means: no, not, without. Amyotrophic
means no muscle nourishment and lateral
means where the locations are in the person’s spinal cord. Nerve cells signal and control the muscles
here. Scarring and hardening takes place
in the region and this hardening is called Sclerosis.
Causes of Lou
Gehrig’s disease
Scientists are not 100 percent sure what causes the
disease. Possible causes include
mutations in a gene called SODI
enzyme. This enzyme protects the body
from damage from free radicals. Another
possibility is that people with ALS have
elevated levels of a chemical message in the brain called glutamate. Autoimmune
disorders, environmental causes (toxins and dietary deficiencies) may also amyotrophic lateral sclerosis have a
50-50 chance of passing it onto their children.
Organ systems that
are affected by the disease
The disorder affects the nervous systems. It is a progressive and degenerative disease
which impacts
the nerve cells in the brain and spinal cord. ALS is a disease which is marked by the
degeneration or death of the superior (transmit messages from the brain to the
spinal cord) and inferior motor neurons.
In the superior neurons,
spastic muscles, hyperreflexia, Bainski’s
sign (the big toe stretches upward while the sole of the foot is moved in a
definite way), and overactive gag reflex are all signs the upper motor neurons
have been damaged. http://als.emedtv.com/als/als-symptoms-p2.html
. Brainstem and spinal cord are located
in the inferior motor neurons. This particular neuron transmits messages
from the superior motor neurons to the muscle.
These inferior motor neurons deteriorate or die. Muscle weakness, atrophy, cramps, and
twitching are all signs that the inferior motor neurons have been damaged. The brain can no longer induct or control the
movement of muscles once the motor neurons expire.
Signs/symptoms of
ALS
Early signs include trouble lifting the front part of the
foot and toes. Legs, feet, and tarsals
become weakened. Speech begins to become
slurred and swallowing becomes more difficult, and twitching/cramping occurs in
the shoulders and arms. There is a head
drop because of the weak spinal and neck muscles and difficulty lifting,
walking, and climbing stairs. The voice
changes and becomes hoarse. There will
also be weight loss, drooling, and swelling of the limbs. All of these things will gradually worsen as
the disease progresses. The disease does
not affect the five human senses. In the
later stages, muscles will continue to get weaker until the individual
eventually becomes paralyzed. The person
will no longer have the ability to swallow or speak at all. They will also lose their ability to even
breathe which will result in death.
Other symptoms include anxiety and depression because as the disease
advances, the ALS patient does not lose the ability of their awareness or
thought processes. ALS patients also
have a greater chance to get the Pneumonia.
Progression of
ALS:
ALS usually starts with twitching of muscles and weakness
in the limbs and slurring of speech. ALS
progresses very quickly because the superior motor neurons die and they are
unable to send any messages to the muscles.
Thus, the muscles weaken, twitch, and they atrophy. People with this disease gradually lose
control of voluntary movement.
Eventually, the person will no longer be able to breathe due to the
muscles in the diaphragm and chest being unable to function anymore. Because of this, many people with the disease
will decide to receive a tracheotomy to assist them with a respirator and help
them to breath by inflating and deflating the lungs.
In the early stages of ALS, victims start to gradually
lose their ability to move their extremities and body. They have difficulty with speech. A small handful of people have memory issues
which studies have suggested may lead to dementia as the disease progresses.
People with ALS experience the following symptoms as
their disease advances into the later stages:
1.
Dementia – Frontotemporal
dementia and Alzheimer’s disease.
2.
Eating difficulties – chewing and
swallowing. Victims are at risk of
aspirating foods and liquids. Secretions
that discharge into the lungs cause pneumonia.
3.
Trouble breathing because the muscles that are
utilized to breath become paralyzed.
This is the most frequent cause of death.
4.
Death
Inheritance
factors
There is a form of genetic ALS but it is rare because
most of cases in the United States are sporadic (90-95 percent). It is called Familial (FALS) ALS which occurs
more than once in a family linage. Only
a very narrow margin (5-10 percent) of people in the United States inherits
ALS. In these families, there is a 50
percent possibility that each child will inherit the mutated gene and get this
form of ALS.
When ALS is of the inherited type, it frequently concerns
the genetic mutation which is accountable for making a powerful antioxidant
enzyme that protects cells from the damage caused by free radicals. Genetic counseling may be recommended if
there is a family history of ALS.
Risk factors
Risk factors are 20 percent more common in men than women
with 60 percent of males being affected.
93 percent are Caucasian. Other
than that, there are no conclusive risk factors for ALS. In 90 to 95 percent of ALS cases, the
condition happens on a random basis.
However, studies are being done to see if environmental and hereditary
risks play a role in the development of ALS.
Also, because of dietary factors, people who reside in Guam, parts of
Japan, and West New Guinea are at an elevated risk as well. As mentioned before, 10 percent of the
victims who have ALS got it from their parents.
Their children have a 50-50 probability of developing ALS. People who have been in the military are at a
higher risk of getting Lou Gehrig’s disease.
Diagnoses
In the initial exam, weakness is seen in the nerves and
muscles which usually begin in one area.
It is very possible that the patient will be experiencing muscle
tremors, spasms, twitching, or atrophy.
It is also possible that there will be twitching of the tongue. Walking will be stiff or clumsy. Abnormal reflexes and possible loss of gag
reflex. There may be uncontrollable
crying or laughing which is called emotional
incontinence.
In order for a physician to make a correct diagnosis,
there must be indications of superior and inferior damage to motor neurons
which cannot be caused by anything other than ALS. Therefore, physicians test for ALS using
several methods. A breathing test will
probably be administered to see if the lung muscles are affected yet.
They use an electromyography
(EMG) to detect electrical activity in the muscles. Certain results of this test can support a
diagnosis of ALS. Another test is called
Nerve Conduction Velocity Test (NCV) which
rules out other diseases that may be causing the ALS-like symptoms in the
patient. For example, it can detect
damage to the peripheral nerves or disease in the muscle instead of ALS. MRI is
another procedure that is used. It uses
a magnetic field and radio waves to obtain detailed images of the brain and the
spinal cord. This is done to rule out
other causes such as spinal cord tumor, a herniated neck disk, springomyelia,
and spondylosis. Spinal tap (lumber puncture) – analyzes the fluid surrounding the Central Nervous System (cerebrospinal
fluid). The person is asked to lie on his or her side with the knees drawn
towards the chest. A local anesthetic is
injected in an area over the lower spine to reduce any discomfort from the
procedure. Then a needle is inserted
into the spinal canal and fluid is collected.
Blood and urine tests are also done to rule out other diseases which
have similar symptoms. Finally, if a
physician suspects that a patient has a disease of the muscle instead of ALS, a
muscle biopsy may be ordered.
Treatment
There is no known cure for ALS yet but there is an FDA
approved drug called Riluzole. It reduces damage to the motor neurons because
it decreases the release of glutamate. It also increases the survival in a
patient for several months. It assists
in problems with swallowing and prolongs the need for ventilation support. To relieve spasticity, drugs named Baclofen
aka Lioresol and Tizanadino aka Zanaflex are given. Other treatments include physical, speech,
and nutrition therapies. Physical Therapy – A physical therapist
will have the patient perform low-impact exercises to sustain their muscle
strength and range of motion and dependence as long as possible. Occupational
therapy – shows the patient how to utilize a ramp, wheelchair, brace, or
walker as their ALS advances. Speech therapy – will help the patient
use techniques that will improve the clarity of their speech and later
recommend speech synthesizers and computers that will help the patient
communicate. Because choking happens
often, patients might choose to get a feeding tube in their stomach
(gastrostomy).
Prognosis
There is no good prognosis for ALS. It is a progressive neuromuscular illness
which weakens motor neurons. These
neurons belong to the nervous system.
They connect the brain and skeletal muscles. These neurons are destroyed as a particular
nerve in the Central Nervous System (that control voluntary movements)
deteriorates and those muscles which these nerves control weaken, atrophy, and
eventually lead to paralysis and death.
The National Institute of Neurological Disorders and Stroke (NINDS) is
doing laboratory research at the National Institute of Health (NIH) welcomes
grants for further research to major US medical institutions. The goals of this research are to find the
cause or causes of ALS, understand the mechanisms involved in the progression of
ALS, and develop effective treatments.
Results from the “NINDS-sponsored phase III randomized,
placebo-controlled trial of the drug minocycline to treat ALS were reported in
2007.” The results of the study showed
that ALS patients that took minocycline had a 25 percent greater chance of
decline than the patients who received the placebo (ALS functioning rating
scale). Also, people are now being
recruited to participate in the A phase III trial of intravenous ceftriaxone.
Conclusion
Lou Gehrig’s disease (ALS) is a progressive degenerate disease. Muscle weakness is one of the very first
signs of ALS. 5,600 cases of the disease
are diagnosed in the United States each year.
Life expectancy for ALS is only 2-5 years from the time that the person
is diagnosed with it. Since the disease
varies from person to person, over half of the people who have it, live longer
than 5 years of quality life with it. It
does not target people for race, ethnic, or socioeconomic reasons and it can
happen to anybody. People with this
disease do not lose their ability to think, reason, or their cognitive
abilities. Most victims of the disease
will die from respiratory failure and also lose ability to move or speak. Even though this will all occur, most
patients will still have control over their eye muscles, bladder, and bowel
functions. The fact that ALS is an awful
disease and that the victims of it can still think, makes it even more
troubling to imagine the way these victims suffer in the final stages of the
disease. If you suspect you or someone
in your family has symptoms of ALS, you should contact your medical provider
immediately.
References
Amyotrophic Lateral Sclerosis (ALS)-Topic Overview
(WebMD)
(WebMD)
Treatment for Amyotrophic Lateral Sclerososis
(HealthCommunities.com)
(HealthCommunities.com)
Amyotrophic Lateral Sclerosis Fact Sheet
(NINDS)
(NINDS)
Amyotrophic Lateral Sclerosis – Overview
(MayoClinic.com)
(MayoClinic.com)
NINDS Amyotrophic Lateral Sclerosis (ALS) Information
Page
(NINDS)
(NINDS)
Who Gets ALS
(The ALS Association)
(The ALS Association)
Forms of ALS
(The ALS Association)
(The ALS Association)
Facts You Should Know About ALS
(The ALS Association)
(The ALS Association)
Symptoms of ALS
(The ALS Association)
(The ALS Association)
