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Amyotrophic Lateral Sclerosis Essay Research Paper Amyotrophic

Amyotrophic Lateral Sclerosis Essay, Research Paper

Amyotrophic Lateral Sclerosis

Motor Neuron Disease Maladie de Charcot Lou Gehrig’s Disease

What is the Disease?

ALS is an extremely deadly disease affecting the nerve cells that

control the victim’s voluntary muscles. These nerves shrink and eventually die,

leaving the muscles without stimulation. As these muscles go without

stimulation, they too eventually shrink and die. The victim progressively

weakens to the point of complete paralysis of all voluntary muscles and some

involuntary muscles, such as breathing and swallowing, and soon after this point,

death is inevitable.

‘A’ means “Without” ‘Myo’ means “Muscle” ‘Trophic’ means “Nourishment” ‘Lateral’

refers to uneven development of symptoms between right and left sides

‘Sclerosis’ refers to “destruction” of tissue

The History of ALS

A French doctor named Charcot first identified ALS in 1874. It is one

of the most devastating diagnoses a person can receive. ALS is said to start

between the years of 40 and 70, with the exact average being 45.6 years old.

The most classic case of Amyotrophic Lateral Sclerosis is Lou Gehrig. Lou

Gehrig was a New York Yankees first baseman, who from 1923 to 1939, had never

missed a game and had a life time batting average of .340. However, the

symptoms of ALS emerged in 1938, and in 1939, he was diagnosed with the disease.

At that time doctors knew little to nothing about the disease and the only

suggested treatment was the untested vitamin E. So Gehrig ate a daily plate

full of garden grass, until June 2, 1941 when he died at the age of 37.

ALS affects approximately 1 out of every 100,000 people. In the United

States there are around 30,000 Americans affected by ALS, and 3,000 more are

diagnosed with the disease each year, with men being affected slightly more than

women, and in some cases, running in families. However while this is the same

number of new cases as Multiple Sclerosis, Multiple Sclerosis affects around

350,000 Americans. The difference is that 50% of ALS patient’s die within three

years, and 80% die within five. The disease is in some ways quite similar to

Alzheimer’s except with Alzheimer’s you have a body walking around with a

diseased brain, whereas with ALS you have a healthy brain trapped inside a

diseased body.

Symptoms

About one-third of those with ALS become aware of their disease when

their hands become clumsy, causing difficulty performing anything needing fine

finger movements. Another third find a weakness in their legs and may trip

because of a mild foot drop. The remaining one-third notice slurring in their

speech or difficulty swallowing. Because all of these symptoms happen naturally,

it is generally not characterized as ALS until the symptom progressively worsens.

This happens as the affected area’s muscle cells deteriorate, resulting in

muscle tenseness. Frequently one side of the body is affected first and it then

gradually passes to the other side. Muscles in the eyes, anus and bladder are

generally left unaffected.

Diagnoses

As there is no known way to prevent this disease, there is also no

specific clinical test to identify ALS. It generally involves a physical

examination, perusing through the patient’s medical history, and neurological

testing. To test muscle activity specialists often use an EMG, or

electromyogram, and will often use CT scans, MRIs, and thorough blood

examination. There is also a recently developed SOD1 scan, the gene now thought

to be the cause for ALS, especially familial ALS. Only 20%, however, of

patients with familial ALS show positive on the SOD1 scan.

Progress of ALS

Until very recently very little was known about ALS, either what started

it or how to treat it. Currently there are 3 types of ALS: classic (sporadic),

familial, and the Mariana Island.

Classic ALS accounts for 90-95% of ALS patients in the U.S. The

infrequent familial form (FALS) is inherited and if your parents had FALS there

is a 50/50 chance you will have it as well. The Mariana Island form is a rare

form of ALS found in patients taken from Guam and Japan. ALS appears evenly

across the globe except in the Mariana Islands in the West Pacific and the Kii

Peninsula of Japan where it is unusually high.

Back during Gehrig’s time little else besides vitamin E was even

considered a “potential” therapy, and there were only guesses as to the cause of

the disease until 1991 when evidence linked FALS to chromosome 21. Then in 1993

the same research team identified a defective SOD1 gene on chromosome 21 as

being responsible. It is now known that structural defects in the Super Oxide

Dismutase, or SOD, enzyme reduces the ability to protect against damage to motor

neurons.

Treatment

Traditionally doctors were unable to subscribe anything other than a

good source of Vitamin E, exercise and a healthy mind. However, in June of 1996

the Food and Drug Administration passed the first drug for ALS. The drug

Riluzole was successful in lengthening the life-time of ALS patients, especially

those with FALS. However, there is still no way to dampen the symptoms or

prevent those who don’t have it, from getting it. This still was a big step for

ALS and there are now 21 countries that have approved Riluzole, including the

Czech Republic and all 15 members of the European Union. Gabapentin is also

similar to Riluzole and is being tested for approval by the FDA. More

importantly, a drug known as Myotrophin is being tested as well by the FDA and

may be the first drug to slow the progress of paralysis. Because Myotrophin

acts differently than Riluzole, they, hopefully, can be used in synch as well.

Rescources

Science News, Vol. 145, page 202 The Sacramento Bee, March 2, 1994, A8 The

Sacramento Bee, June 9, 1996 The Wall Street Journal, June 13, 1995, B7 Applied

Medical Informatics (AMI), 1994 Muscular Dystrophy Association (MDA), January 31,

1996 The New York Times, May 9, 1995 The New York Times, June 13, 1995 Gene

Therapy, March 1995 Mayo Clinic Health Letter, April 1996, page 5 Rhone-Poulenc

Rorer, August 1995 The ALS Association and the Neuromuscular Research Foundation

Internet Sites:

http://www.caregiver.org/fs/fs_als.html

http://www.medicinenet.com/

http://www.phoenix.net/~jacobson/guide2.html

http://www.familyvillage.wisc.edu/lib_als.htm

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