Amyotrophic Lateral Sclerosis - Term Paper Example

Amyotrophic Lateral Sclerosis al Affiliation: Amyotrophic Lateral Sclerosis (ALS) ALS is a chronic disorder that affects the nervous system-specifically the nervous system of the spinal cord and brain. It is also called the Lou Gehrig’s disease. It progressively degenerate the motor neurons that run from the brain to the spinal cord and then go from the spinal cord to the muscles of the body, eventually leading to their death. (Murray, 2006)The cause of this disease is unknown, although a few cases are hereditary. The disease usually affects people at the age of 50-60 years old. When these neurons die, eventually, the brain loses the ability to control muscle movement. This may cause paralysis at the later stages of the disease. If a muscle is affected by death of its motor neurons, this means that it does not get nourishment. Therefore, the muscle wastes away (atrophy) leading to hardening of the muscle (sclerosis). Pathophysiology The main characteristic of this disorder is the destruction and death of the motor neurons in the brain and spinal cord in which before their destruction they develop inclusions in their structures-the axon and cell bodies that are rich in protein. The proteins are believed to be as a result of a problem in the degeneration of protein and these inclusions have a substance called ubiquitin and this combines with one of the proteins associated with ALS for example TAR DNA binding protein. (Murray, 2006) As the motor neurons get destroyed in the lateral and anterior parts of the spinal cord, the neurons are replaced by astrocytes that cause sclerosis. The degeneration of the upper motor neurons that is located in the cortex of the brain results in paralysis, increased reflexes and stiffness of the affected muscles. The degeneration of the motor neurons that is located in the in stem and the horn-like part at the anterior of the spinal cord results in flaccid paralysis, weakness of muscles and atrophy of the muscles, decreased reflexes and decrease in the muscle tone. Clinical Manifestation The initial symptoms of this disorder are generally, muscle weakness affecting mostly those of the arms and legs, cramping, difficulty in swallowing, problems in speech and breathing and stiffness of the muscle that has been affected. (Murray, 2006) When the clinical manifestation is first noticed in the arms and legs, it is referred to as limb-onset ALS whereas if the symptoms affect the speech first it is called bulbar-onset ALS. The bulbar symptoms include difficulty in speech, difficulty in swallowing, drooling, atrophy and fasciculation of the tongue. When the upper motor neurons are affected, the disorder is referred to as spastic bulbar paralysis and when the lower motor neurons are affected, it is referred to as flaccid bulbar paralysis. (Andrews,1976). There are cases where both spastic and flaccid paralyses have occurred together. In a few cases of the bulbar upper motor neurons degeneration, the patients may develop a condition referred to as the pseudo-bulbar effect or the emotional liability in which a patient has exaggerated and uncontrollable emotions like excessive laughing, smiling or crying. The symptoms of the upper motor neuron disorders are; jerking of the jaws, increased reflexes, stiff and tight muscles (spasticity), abnormal condition of the reflex called Babinski sign, loss of the ability to control muscles and general weakness. These symptoms may disappear as soon as the lower motor neuron signs begin to appear slowly. The symptoms of the lower motor neuron are; atrophy and fasciculation (twitching) of the muscles, decreased muscle reflex, cramping of the muscles, muscle weakness. When the muscles associated with breathing become affected, the patient most likely ends up using the ventilator support to live. In general, the senses of touch, sight, smell and taste are never affected because the disorder mainly affects the motor neurons. Diagnosis ALS is hard to diagnose mainly because there is no definitive test developed to diagnose it and because its symptoms are similar to some of the diseases of the nervous system. A few examples of these conditions include-multiple sclerosis, spinal muscular atrophy and post-polio syndrome.( Murray, 2006) However, there are tests a doctor can order to rule out the possibility of the other neurological disorders existing. The doctors also use the clinical manifestations in diagnosing this disorder as well as getting the medical history. The tests that may be requested include; Electromyography-this is a special technique that involves insertion of an electrode that is needle like in various muscles through the skin to study the activity of the muscles. This helps in diagnosis of ALS or any other condition that is affecting the muscle producing the symptoms observed. Magnetic Resonance Imaging-this is a radiology procedure that uses radio waves and magnetic fields to obtain images of the brain and spinal cord. If the images are normal, it may suggest possible existence of ALS sine in ALS the MRI images are usually normal. Nerve Conduction Study- this study involves measuring and assessing the nerves’ ability to send impulses and signals. This helps mainly in detection of muscle disease and peripheral nerve disorders, and may help in ruling out ALS. Routine lab tests- these tests may be requested, specifically urine tests and blood tests, to help in ruling out possibility of other diseases that may be causing symptoms similar to ALS for example; HIV/AIDS, Lyme disease and west Nile virus. Muscle biopsy may also be performed to differentiate the ALS from myopathy which illicit similar symptoms. Also a lumbar puncture may be performed to obtain the cerebrospinal fluid for examination. Current treatment options and best practices There is no cure for treating this disorder currently. Therefore treatment and management is focused on reducing the symptoms and prolonging life by proper management and care. The best care for these patients is given under a team of specialists who address the different symptoms and complications arising from this condition which consists of a physiotherapist, a nutritionist/dietician, respiratory therapist, a social worker and a swallowing and speech therapist. (Bernat, 2008) There is only one drug administered to the patients once the diagnosis has been done called Riluzole. This drug’s effect is to reduce the progression of the disease hence prolonging the life of the patients. It has mild side effects though in case of renal dysfunction, the drug administration should be ceased. Due to the pulmonary problems, vaccination should be given to these patients to prevent the diseases of pulmonary system. Also, due to the weakness of the lung muscles, breathing progressively becomes difficult therefore breathing tests should be performed on a regular basis and if it becomes worse, mechanical ventilation is provided. Therapy given includes; physical therapy-which helps in dealing with pain, mobility and gaining independence. Some of the practices involved include exercise (low impact), helping a patient know how to use equipments like walkers or wheelchairs to help in mobility. Occupational therapy involves helping the patient deal with the weakness of the limbs to help the patient become independent and perform daily activities such as grooming, eating and using the toilet. This therapy also enables a patient to use a computer despite the weakness of the hands. Speech therapy involves teaching the patient the techniques to help them speak clearly, and making others understand the patient’s speech too. As the disease a progress, the speech worsens, the speech therapist may suggest the use of devises such as computers to help in communication. (Bernat, 2008) Nutritional advice is given to the patients to make sure that they eat foods that will not make swallowing difficult while taking care of their nutritional needs. These patients should be encouraged to take food with high caloric content especially in management and prevention of muscle wasting and weight loss. Most of the time as the disease worsens; the patients are given feeding tubes to easen swallowing, avoiding chocking and to prevent pneumonia which develops when the liquids are inhaled into the lungs Palliative care is given to patients with severe ALS who are mostly at the final stage of the disease. This care involves addressing the medical, financial and emotional challenges by providing financial help and insurance help in buying equipments needed for therapy and providing counselling for the patient and the family. This disease is still mysterious therefore research processes and trials are trying to develop treatment with most tying to target the Pathophysiology of the disease and studying the mutative gene that causes this disease. Potential Ethical Concerns Finding out that one has Amyotrophic Lateral Sclerosis or a relative can be devastating and life changing. (Bernat, 2008).The access to the best care and medication is the first priority but this is difficult due to the high cost of the treatment in general. Most of the time, even the financial insurance for health does not cover total costs involved in treating ALS. Due to these conditions in insurance co-pays along with annual prescription caps. Most people are forced to look for other options to fund treatment. Some families have been forced to use their houses as collateral in getting loans. As the disease progresses to the final stages, the financial costs increase greatly due to intensive care required by the patients and hospitalizations that may be long and costly, in addition to the costs in the equipments/devices required and cost of medicines. Most families with patients affected by this disease prefer home care, even though it is still expensive but lower on costs. This may force others to quit their jobs to provide extensive care to the patient. Home care includes personal and extensive care for the patient to help them perform all tasks and this requires support in the process of providing bare and maintaining the relationship between the care giver and the patient.( Bernat, 2008) With the knowledge of the facts in this paper and the research projects and trials to aid in treatment of this disease, if one is diagnosed with this condition, it does not necessary mean that his/her dreams have come to an end. There are challenges in adapting to the condition, dealing with the drugs and treatment involved and financial strains but there is hope that the future holds bright results in finding ways to prevent and manage this disease. References Andrews, J. M., & Conference on Research Trends in Amyotrophic Lateral Sclerosis (1975, Pacific Palisades, Calif.). (1976). Amyotrophic lateral sclerosis: Recent research trends ; proceedings of a Conference on Research Trends in Amyotrophic Lateral Sclerosis held October 18-20, 1975, in Pacific Palisades, California. New York [u.a.: Acad. Press. Bernat, J. L. (2008). Ethical issues in neurology. Philadelphia: Lippincott Williams & Wilkins Murray, C. A. (2006). Amyotrophic lateral sclerosis: New research. New York: Nova Biomedical Book . Read More