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Amyotrophic Lateral Sclerosis (ALS)

AMYOTROPHIC LATERAL SCLEROSIS 13

Clinical Syndrome,

The clinical syndrome Amyotrophic Lateral Sclerosis which is alsocalled Lou Gehing`s disease at times is a deadly disease that attacksneurons. Amyotrophic Lateral Sclerosis is an illness that falls undera group of disorders called `motor neuron diseases`. These groups ofillnesses are identified by continuous worsening of the motor neuronsand eventually killing them. Neurons or nerve cells are in charge ofcontrolling muscles like that of the legs, face and arms. We have tounderstand what motor neurons are. Motor neurons are cells found inthe nervous system. Examples of these cells are brain cells, spinalcord cells and brain stem cells (MDA n.d). These cells serve as apassage of information between the voluntary muscles of the body andthe nervous system. Information from the brain is send to the spinalcord and finally to other specific body organs. For people sufferingfrom Amyotrophic Literal Sclerosis, both their brain and spinal cordcells worsens or even stops functioning completely. This causes thesemotor neurons to cease sending information to other body parts suchas muscles. Due to this, muscles deteriorate slowly by slowly,develop some seizures (Fasciculations) and become waste (atrophy).This causes the upper motor neurons (the brain) to be unable tocommence voluntary functioning and control them as well. In the longrun, all muscles that falls under voluntary control become affected.This causes the patients suffering from this disease not to be ableto locomote their arms, legs and the whole body. Amyotrophic LateralSclerosis eventually affects the respiratory system and people areunable to breathe, thus dying. Most of the patients with ALS diewithin three to five years of diagnosis. Nevertheless, a smallerpercentage of patients of almost 10 percent live to more than tenyears. In as much as Amyotrophic Lateral Sclerosis does not affectindividual`s intellectual ability, modern researches show that somepatients with ALS have memory failure due to depression (ASL, n.d).

Amyotrophic Lateral Sclerosis disease doesn`t interfere with anindividual`s visual ability, sense of smell, their ability to taste,hear or even sense of their touch. Their excretory system functionswell as well in the early stages. Only that in the final stages ofthe disease, most patients require assistance to and fro thebathroom. Most patients of this fatal neurological illness succumbdue to lack of breath. This happens after the diaphragm and chestwall muscles fail thus leading to failure in respiratory system.

Amyotrophic Lateral Sclerosis is a disease that affects most peoplein the whole world. It is not a respecter of race or class.Nevertheless, males are more prone to ALS as compare to females.Amyotrophic Lateral Sclerosis affects elderly people of the age of 40to 60 years, however, even the young and the very old are not spared.In the United States, approximately five thousand (5,000) people arediagnosed with this neurological disease annually. It is estimatedthat about 30,000 individuals in the US have ALS. A good percentageof patients with Amyotrophic Lateral Sclerosis are not geneticvictims. This means that most patients do not get this fatal diseasefrom their family tree, it just happens with no any apparent reason.A smaller percentage of individuals suffering from ALS, like 7percent, get the disease from their family. This occurs solely whenone parent of the patient is a carrier of the gene that causes ALS.National Institute of Neurological Disorders and Stroke states,“About one-third of all familial cases (and a small percentage ofsporadic cases) results from a defect in a gene known as “chromosome9 open reading frames 72,” or C9orf72. The function of this gene isstill unknown. Another 20 percent of familial cases result frommutations in the gene that encodes the enzyme copper-zinc superoxidedismutase 1 (SOD1).

Causes of Amyotrophic Lateral Sclerosis

The definite cause, as stated earlier in this research is unknown.Nevertheless, according to ALS Hope Foundation, probably, AmyotrophicLateral Sclerosis is a very complicated illness of multiple systemswith various structures that causes the motor neurons to stopfunctioning (NIH, nd). It is thought that either one of thesestructures or a multiple of them causes Amyotrophic LateralSclerosis, plus there could be genes and family reasons speed up theillness. Some of the structures that causes Amyotrophic LateralSclerosis are explained below.

Deficient growth of glutamate receptors “Asymmetry of Chemicals”

The first thought of cause of Amyotrophic Lateral Sclerosis isdefective glutamate metabolism. Glutamate is the most importantcompound in cellular metabolism (NIH, nd). It is generally known tobe the key transmitter for the brain cells to function in a normalway. Glutamate can be poisonous at the same time if it is in excess.One of the strongest theories of microorganisms of AmyotrophicLateral Sclerosis is the excess production of glutamate. Patientssuffering from Amyotrophic Lateral Sclerosis have excess glutamate intheir nervous system. This eventually causes the death of nervecells. Excess glutamate may occur as a result of more discharge ofglutamate from nerve cells or ambiguous transmission of glutamatefrom the nerve cell area. Up to now, there is proof that theglutamate transmitter that takes glutamate from the brain, backboneand brain stem may be changed. This might spoil protein transmissionprocess (NIH, nd).

Dysfunctional Immune System Response

In some cases, the immune system of an individual at somepoint, starts eating up the person`s bodies own good or normal cells.Anytime the immune system attacks the person`s normal cells, theprocess leads to the failure of the normal functioning of the cellsof the nerve which eventually causes the death of those cells.

Defection of the genes

From the introduction part of this paper, it is noted thatAmyotrophic Lateral Sclerosis is caused by gene mutation. Some of thepatients with ALS inherited it from one of their parents. Multiplegene mutations, to some percentage cause Amyotrophic LateralSclerosis that is inherited. This way of getting ALS is almostsimilar to the form that is not inherited (Mayo Clinic Staff, n.d).

Aggregation of Proteins

Protein aggregation inside the nerve cells may lead tosimultaneous excess and ambiguous growth of proteins in the nervecells. When the proteins are abnormally mishandled in the nervecells, it gradually causes the cells to stop functioning. This inturn leads to the death of the nerve cells. Most patients ofAmyotrophic Lateral Sclerosis have abnormal forms of proteins intheir nerve cells. When the nerve cells die, the voluntary systemstops functioning thus the cause of ALS.

Environmental Factors

Another cause of Amyotrophic Lateral Sclerosis, though notfully proofed, is environmental factors. Since there is no a concisecause of ALS, scientists and researchers are in the process oflooking for the environmental factors role that could be a possiblelead to this fatal illness. Some of the environmental factors thatare being studied by the researchers are risk of poisonous orcontagious agitators and physical assault. Character and type of workindividuals indulge themselves with are also other factors. There isstill more researches being carried out on what really causesAmyotrophic Lateral Sclerosis.

Symptoms of Amyotrophic Lateral Sclerosis

Signs and symptoms of Amyotrophic Lateral Sclerosis are inmost cases neglected since they are not severe especially in earlystages of the disease. Some of the symptoms that may be seen when thedisease advances are outlined below.

The early signs of this fatal disease are different in mostpatients. Not all patients with ALS have the same symptoms and signs.These symptoms vary in the sense that one patient will experiencemuscle weakness in the legs, another one will have weakness in thearm whereas another might have problem with speaking. Despite thefact that patients with ALS have an average life span of five years,the speed at which this illness advances differs in patients(Umanekii &amp Dekonenko, 1983). This makes other people with thisillness to live even beyond ten years after contracting the disease.This may be due to what caused the disease in the first place or maybe due to other factors that researchers are trying to find out.Amyotrophic Lateral Sclerosis has been found to stop advancing insome people suffering from it. Nevertheless, there is no evidencefrom researchers as to why this is the case. The signs may start bysomeone dropping things or being unable to utter some word.

In some cases, patients may have initial symptoms in the legs andarms where by either lifting something becomes hard or painful, orwalking becomes a bit tedious. Some patients even find it hard to dotheir daily normal, simple chores such as doing laundry, cleaningdishes or even bathing. Walking becomes a problem to other patients.This is a sign that the muscles have began being weak. A hugepercentage of patients with Amyotrophic Lateral Sclerosis experiencethis symptom almost over fifty five percentage. Some patients mayexperience heaviness of the hands and feet. Fasciculation is alsoanother symptom of Amyotrophic Lateral Sclerosis. This is tremblingof the muscles, in most cases the arm and leg muscles. Some patientsmay fall down (ASL Hope Foundation, n.d).

As the disease advances in the body, muscle weakening progresses aswell. Patients start experiencing problems with speaking anddifficulties in swallowing things, chewing and eventually breathing.When it reaches at this stage, it shows that the respiratory systemis affected so fatally and this could lead to death (Sabatelli et al,2008). The patient’s diaphragm and intercostals may be damaged. Thediaphragm is the curved muscle found under the lungs. It moves up anddown thus letting air to and fro the system. On the other hand,intercostals are muscles located in the middle of the ribs. Thesemuscles compresses and eases while someone is breathing, they as wellhelp with ventilation of air in the body. In order to survive thisordeal, the individual suffering from ALS at this stage will requirea ventilator support that is perpetual. As mentioned earlier in thisresearch, Amyotrophic Lateral Sclerosis affects the motor neurons sothe disease has no any negative impact on seeing, sense of touching,smell as well as their ability to hear (Castrillo-Viguera et al,2010).

Another symptom of Amyotrophic Lateral Sclerosis, which may occur asa result of weakening of respiratory muscles, is the immune system ofthe body becomes weak as well so the person will experience morediseases caused by viruses and bacteria. Illnesses such as cold,pneumonia, flu and many others will be so common. Patients will startexperiencing fever, coughing and pain in the chest when breathing.

As noted by Walling (1999), some patients ofAmyotrophic Lateral Sclerosis may have difficulties in crying andlaughing. This is a short term failure to get hold of their emotions.This is mostly known as `Pseudobulbar affect`. Not all people whohave ALS experience this sign. This is not caused by someone beingsad or happy, it just happens randomly with the patients ofAmyotrophic Lateral Sclerosis, (ALS). Muscle cramps and twitches isanother symptom that patients with Amyotrophic Lateral Sclerosisexperience. This can interfere with the patient`s sleeping patterneven though they don`t feel any pain.

Diagnosis of Amyotrophic Lateral Sclerosis

There is no definite test of Amyotrophic Lateral Sclerosis.Most of the diagnosis is gotten from the upper motor neurons andlower motor neurons tests. The diagnosis of Amyotrophic LateralSclerosis is basically found or based on the signs and the symptomsthat a shrink sees in his or her patient. A number of tests arecarried out to eliminate presence of other illnesses in the patient.Doctors will gather information of the patient, both the current andpast. They in turn perform a test of neurons regularly to see ifsings such as weakness of the muscle, twitching and cramping of thebody muscles are experienced by the patient. If they do, then thatwill be a diagnosis of Amyotrophic Lateral Sclerosis (Walling, 1999).Other series of tests may be conducted on the patient since the signsof Amyotrophic Lateral Sclerosis in the initial stages of the illnessmimic symptoms of other diseases which can be treated and completelybe cured. One of the tests that doctors carry out on patients is`electromyography` (EMG). This a technique that shows electricalworks in the muscles. Some EMG really shows the diagnosis ofAmyotrophic Lateral Sclerosis, (ALS). There is also a common testcalled `nerve conduction study` (NCS). This test detects theelectrical energy by evaluating the ability of the nerve to record asignal. Particular ambiguous in the nerve conduction study (NCS) andelectromyography (EMG) may show that the person has muscle illnessrather than Amyotrophic Lateral Sclerosis. The doctor may decide toperfom an MRI (magnetic resonance imaging). This uses radio waves tochannel information of objects to the spinal cord and to the brain aswell. Magnetic resonance imaging (MRI) may show other illnesses apartfrom Amyotrophic Lateral Sclerosis that may be making the patient tofeel weak and show signs of ALS. Examples of these illnesses asstated by NIH are, “spinal cord tumor, a herniated disk in the neckthat compresses the spinal cord, syringomyelia (a cyst in the spinalcord), or cervical spondylosis (abnormal wear affecting the spine inthe neck).

Diseases such as human immunodeficiency virus (HIV), human T-cellLeukimia virus (HTLV) polio and many others can in most cases showsymptoms of ASL. Disorders of the neurons can also have similarsymptoms of Amyotrophic Lateral Sclerosis. If all these tests aredone and the results are negative, then physicians conclude that thepatient has Amyotrophic Lateral Sclerosis. Nevertheless, somepatients opt for a second opinion from another physician (Conwit,2009).

Treatment of Amyotrophic Lateral Sclerosis

Just like human immunodeficiency virus (HIV), the cure forAmyotrophic Lateral Sclerosis hasn`t been discovered yet. It is apuzzle that many scientists and researchers are working towardsolving. All in all, the Food and Drug Administration (FDA) gave thefirst drug of the illness. The drug is called riluzole (Rilutek)which was discovered in 1995. This drug is known to reduce pain tomotor neurons by reducing the production of glutamate. Doctors haveadministered this drug to many patients with Amyotrophic LateralSclerosis and they have seen that it helps prolong the lives of thepatients even if just by months. This is seen in patients who have aproblem with swallowing and chewing. This drug, as well prolongsduration before an individual gets ventilation support. As mentionedearlier,

Most treatments of Amyotrophic Lateral Sclerosis are just meant toreduce and kill signs in patients. This in turn relieves pain. Theyare well known as supportive care and are given by in assistance ofvarious doctors, pharmacists and so on. Social workers can also helpthis supportive care. Doctors can specify drugs to assist reducefatigue, calm muscle cramps, control plasticity, and decrease moresaliva and apathy. Drugs also are there to help patients with pain,depression, sleep disorders, as well as convulsion. Druggists cangive recommendation on the well usage of medications and oversee apatient`s medicinal requirement to avoid danger caused by of drugsynergy.

Physical therapy plus some sophisticated machines can improve thepatient of Amyotrophic Lateral Sclerosis not to depend on others foreverything. Exercises such as swimming, walking and riding immovablebicycles improve the muscles that are not affected by ASL, thusstrengthening cardiovascular nerves. This also helps the patient todo away with fatigue and emotional problems like depression (MayoClinic Staff, n.d).

For the patients with Amyotrophic Lateral Sclerosis with a problemwith speech may get help from speech therapists. The can be taughtsome measures to adapt such as speaking audibly and clearly. Thesehealth professionals’ cal assist patients with Amyotrophic LateralSclerosis in advanced stages to respond to simple questions likethose that requires yes or no answer with their eyes or even nose.

People and caregivers of patients with ALS can get a plan fornutritionists on how to prepare meals for the patients. Nutrition isa very vital part care to these invalids. Meals that are hard toswallow are to be avoided since they can chock the patient. NIHstates, “People may begin using suction devices to remove excessfluids or saliva and prevent choking. When individuals can no longerget enough nourishment from eating, doctors may advise inserting afeeding tube into the stomach. The use of a feeding tube also reducesthe risk of choking and pneumonia that can result from inhalingliquids into the lungs. The tube is not painful and does not preventindividuals from eating food orally if they wish.”

Patients with Amyotrophic Lateral Sclerosis may in the long run, asthe illness advances, use forms of mechanical ventilation(respirators) in which a machine blows up and blows down the lungs.To be effective, this may require a tube that passes from the nose ormouth to the windpipe (trachea) and for long term use, an operationsuch as a tracheostomy, in which a plastic breathing tube is inserteddirectly in the patient`s windpipe through an opening in the neck.Patients and their families should consider several factors whendeciding whether and when to use one of these options. Ventilationdevices differ in their effect on the person’s quality of life andin cost. Even though ventilation support can calm difficulties withbreathing and prolong a patient’s life, it does not affect theadvancement of Amyotrophic Lateral Sclerosis. People need to be fullyinformed about these considerations and the long effects of lifewithout locomotion before they decide on ventilation support (Synapsen.d).

Caregivers as well as social workers and hospital nurses assistindividuals, parents, and people taking care of the patients withAmyotrophic Lateral Sclerosis with the medicinal, emotional, andfinancial challenges of coping with Amyotrophic Lateral Sclerosis,especially in the last stages of the illness. Respiratory therapistscan help caregivers with chores such as how to operate and maintainrespirators, and home care nurses are there not only to give medicalcare but also to show caregivers how tube feedings are given andtaking patients from one place to another to do away with painfulskin problems that come with lying down for a long time withoutmoving. Home health service nurses work in deliberation with doctorsto guarantee appropriate assistance as well as relieve pain (Phukanet al, 2007).

Conclusion

In conclusion, as stated earlier in this research, even though thereis no cure yet for Amyotrophic Lateral Sclerosis, there is treatment.First, there is a drug that is called Rilutek, which reduces thethings that aim at likely causes of the fatal illness. More so,scientific advancement in the daring treatment of this illness hasadvanced by reducing glutamate levels. Furthermore, there are manycontinuous medical tests that make use of respiratory difficulties ofAmyotrophic Lateral Sclerosis with noninvasive ventilation andrespiratory management as well as belligerent nutritional mediationhas given momentous advancement in the anguish and fatality of thisdisease. Finally, there are signs distinguishing treatments and aninterdisciplinary means of making use of career and physicaltherapists, of function in the individual suffering with AmyotrophicLateral Sclerosis. A study of this illness` definite treatment,clinical tests, and signs speech therapists, nutritionists, and nursespecialists that have led to improved quality of life andmaximization management follows. Despite the fact that there is nocure yet for this illness, people should not fear having a number oftests just for the reason that they will die soon. It is betterknowing than not knowing at all. Caregivers as well as social workersand hospital nurses assist individuals, parents, and people takingcare of the patients with Amyotrophic Lateral Sclerosis with themedicinal, emotional, and financial challenges of coping withAmyotrophic Lateral Sclerosis, especially in the last stages of theillness. Respiratory therapists can help caregivers with chores suchas how to operate and maintain respirators, and home care nurses arethere not only to give medical care but also to show caregivers howtube feedings are given and taking patients from one place to anotherto do away with painful skin problems that come with lying down for along time without moving and contractures (Sutedja et al, 2009). Homehealth service nurses work in deliberation with doctors to guaranteeappropriate assistance as well as relieve pain. With time, there willbe a definite cure for this fatal disease due vigorous research andstudy that scientists have put into it.

References

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Conwit, Robin A. (December 2006). &quotPreventing familial ALS: A clinical trial may be feasible but is an efficacy trial warranted?&quot. Journal of the Neurological Sciences 251 (1–2): 1–2.

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