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Genetics

Amyotrophic lateral sclerosis

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Amyotrophic lateral sclerosis

Abstract

Amyotrophic lateral sclerosis ASL is one of the most common degenerative disorders of the motor neuron systems. Despite the fact that ASL has been found to be incurable and is fatal in natures, the median survival age for the diseases has been established to be three years. This can also be extended according to the survey conducted on the survival levels of the disorder, depending on the meaningful quality of life and life for the patients. It has been established from the various research that in 75-80 of the patients who suffered ALS, the major symptoms of the condition does begin with the involvement of the limbs. Other minor signs often follow this and, if not monitored correctly in good time, can result in the death of the victims within a relatively shorter period of rime.

Introduction

ALS is considerably short for Amyotrophic Lateral Sclerosis. The disease, which was first detected in 1869 by a doctor, Jean-Martin haricot, is a progressives disease, which means it gets worse over time. It majorly affects the nerves of the brain and the spinal cord that controls the body muscles. Very often, as the nerves get weak as a result of this disorder, it becomes hard for an individual patient to eat, talk a walk, or even breath, among other things. This, therefore, means that the victim is at a higher risk of dying.  The ALS does affect the motor neurons. These nerve cells send clear messages from the brains to the human spinal cord and into the muscles of the entire body. There are two types of neuron affected by the AL disease, namely; the upper motor neuron and the lower motor neuron.  The upper motor neuron concerns the brain, while the lower motor neuron is on the spinal cord.

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Method

The study was conducted between 80 patients between the ages of 18-55 across the different parts of the USA.  This was with the motive of developing the actual understanding of what are the specific prevalence age of the disorder and any other factor that affects the prevalence age that the diseases might have. Besides, the survey was based on a review of the various article which was based on the ALS disorder. The study did review a total of 3 article that concerns the ALS diseases to develop facts concerning the conditions this included the analysis on the elements such as the symptom and signs, the scientific review, the genetics, the biometrics of the diseases and lastly the clinical implication of the Amyotrophic Lateral Sclerosis ALS diseases.

Results

According to the study out of 80 patients between the ages of 18-55 years who were the sample for the survey, Over 50 of the patients were above the age of 40 years. Only 3 of the patients were below eh ages of 20 years. This has a clears indication the diseases have a relatively higher prevalence among the people above the age of 45 years, as the study reveals. Most of the patients who suffered Amyotrophic Lateral Sclerosis, ALS has experienced some form of nerve-related problems in the past, according to the survey.

Pathophysiology

With Amyotrophic Lateral Sclerosis ALS, the body motor neuron of the brains and or the spinal cord usually breaks down and eventually dies. When this takes place, the brain or the spinal cord cannot be able to perform its normal functions. For the brain, it cannot send a message to the muscles of the body. The result of his is that because the body muscle cannot get any signals which are vital for the body functions, they do get weak, and this is what is termed as atrophy. When this proceeds, the body muscles get nervous, and the patient gets to lose control over their movements and in all over body processes such as talking or eating.

First, for the patients, the body muscles do get weak and stiff. After some time, the patient cannot move their arms, head, legs, and other parts of the body. Eventually, the patient suffers the loss of their diaphragm activity, which means they lose the ability to breathe. Such patients can often be put under machines, and this whole element can be very catastrophic. A patient suffering from Amyotrophic Lateral Sclerosis ALS, in most cases, does lose the ability to undertake various voluntary and involuntary activities. The result of the disease is the advanced stage is death as it is incurable.

Genetics

It has been established that about 5-10% of cases of Amyotrophic Lateral Sclerosis AL are directly inherited from an individual’s parents. C9OF f72is eh most common gene which is linked with diseases and is causing over 40% of the familiar instances where the condition is inherited from one patient to another.  It also considered the cause for the smaller percentage of the sporadic cases, which are also reportedly considering the disease.  This gene is also the 25% cause of frontotemporal dementia. Some persons carrying this form of mutations in most cases do show the signs of both the motor and the neuron dementia symptom.

Clinical implication

An onset of AL can be subtle that the symptoms are typically overlooked. Still, with time, the signs and manifestation of the diseases develop into a considerably profound weakness and atrophy that may result in the ALS.  Some of the clinical signs of the disease may include; fasciculation, muscle cramps, tight and stiff muscles, muscle weaknesses affecting the arm and the diaphragm, slurred and nasal speech and the difficulty when it comes to swallowing. For most patients of the diseases, the first sign to look at does appear either in the legs or the arms. The patient, in most case, do experience difficulty in conducting simple tasks and such as buttoning a shirt writing or locking a key. In different circumstances the patient may experience awkwardness when walking they do notice some form of triple or stumbling which can result in them falling at some cases

Scientific analysis

Thee paper was developed using two leading journals on health. These include.      And. I, however, felt that the first article was more detailed and specific to the elements of the diseases. It is more informative

Conclusion

Amyotrophic Lateral Sclerosis ALS is a group of another rare neurological condition that does involves the neurons that are responsible for the control of the voluntary body movements.  The disease is progressive, and this has a meaning that it can get worse with time for those suffering it. Most often, it is responsible for the difficulties in vain body activities such as chewing, talking, and walking, among others.

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