Duchenne Muscular Dystrophy Issues - Research Paper Example

? DUCHENNE MUSCULAR DYSTROPHY Jayda Fitz 5th Period Anatomy 4/15 Duchenne Muscular Dystrophy Diseases and pathological conditions have been a part of this world since very ancient times. There were different concepts and myths for diseases in the olden times. Human beings who suffered from pathologies were treated in inappropriate ways and they were held responsible for their diseases. It was believed that they were suffering from the diseases due to their evil acts and the disease was a form of punishment from god. As time passed, the causes and mechanisms of human disease started to become understood. It is true that many new diseases have emerged which may have been nonexistent in previous times. This may be due to the formation of different reservoirs for the spread of disease associated with modernization which has brought the world together and hence has paved ways for the spread of disease from one region to another. The rearing of animals has also been considered to be associated strongly with the spread of diseases. Cows and chickens have been linked with outbreak of diseases which include smallpox and measles in the fifteenth and sixteenth century (Sheldon 2003). Thus, with advancement in technology, the patterns of human disease have been understood. It is believed that changing patterns of human living have led to increase in the number of diseases. Major epidemics of diseases broke out in the world that could not be treated owing to lack of development in the field of medicine. This included the millions of fatalities that resulted due to plague in the first half of the twentieth century. Mutations in genes are also associated with many medical conditions and pathologies. The research in the field of genetics has assisted in assessing these conditions (Robbins et al 2005, Levinson 2008). The human body functions on the basis of many organ systems. The integration of these systems is essential for the proper functioning of the human body. The immune system forms an important system of the human body which assists the individual to fight against invading organisms and to overcome the process of disease. The immune system functions either via the direct action of the white blood cells against the invading organisms or by the formation of antibodies against the pathogens that invade the human body. The skin is the outermost barrier and stops the pathogens from entering the body and it is hence referred to as the “first line of defense.” The human body functions via two forms of immunity which include the innate immunity and the acquired immunity. The innate immunity is the immunity that every individual possesses which include the skin and the white blood cells. This form of immunity is not specific against particular pathogens and is the trigger of the body against any foreign substance. The acquired immunity is the specific immunity which results particularly after the human being comes in contact with infective organisms. The acquired immunity is enhanced via the vaccines (Guyton et al 2000; Levinson 2008). The lymphatic system of the human body is the system which is directed towards the immunity. It includes the spleen, thymus as well as the bone marrow. The lymphatic system is directed towards the formation of the cells of the immune system as well as the delivery of these cells to the different organs of the human body. It assists in maintaining a healthy immunity of the individual against invasion (Guyton et al 2000). A wide range of pathological conditions affect the human body. Disorders of the musculoskeletal system of the human body constitute an important set of conditions as they serve to hamper the normal living of an individual owing to their effect on the muscles of the human body. Muscular dystrophies are a set of conditions that affect the muscles of the human body. A dystrophy is basically a condition in which the normal fibers of the muscle become replaced by the fibrofatty tissue. This leads to a loss of functioning and hence the muscles of the body become weak. The conditions are mainly genetic and therefore they are inherited mostly (Robbins et al 2005). Duchenne Muscular Dystrophy is a muscular dystrophy which is a life hampering pathological condition. It is also referred to as childhood pseudohypertrophic muscular dystrophy. This condition is important because it is the most frequently occurring muscular dystrophy and it affects every single child born out of 3300 children in the United States, Australia and Japan. This condition has been in existence since a very long time and it was put forward by different people in the nineteenth century. It was first explained in the year 1852 by Meryon followed by Little in the year 1853 and then by Duchenne in the year 1861 and 1868. The condition is given the name after the name of Duchenne and is hence referred to as Duchenne Muscular Dystrophy (Patricia 2000; Pfeiffer et al 1988). Duchenne put forward a phenomenon for describing this condition and believed that it may result due the problems in the vasculature that tends to provide blood to the muscles. Further research in the condition put forward the fact that the levels of creatine phosphokinase are above the normal limits in the patients who suffer from this condition. This research was provided for in the years 1959 to 1960. In the year 1970, it was analyzed that dystrophy was the major issue that occurred in this condition and further studies were done. A major breakthrough in the research of the disorder was obtained between the years of 1978-1983 when the gene that resulted in the pathology was found out and it was presented that it occurs due a defect in the gene on the X chromosome and in particular at point Xp21. This result assisted in providing for the reason that why this condition only affected males and the fact that females were always supposed to be carriers and could not suffer from the full blown disease. In the year 1985, techniques were put forward that could assist is checking for the condition in the fetus during the period of pregnancy. The gene for the disease was finally obtained through the process of cloning and the protein that is synthesized via this gene was given the name of dystrophin in the year 1987. Further research into the condition is still underway (Emery 2000). Duchenne Muscular Dystrophy is a condition that presents only in boys and does not tend to affect females. An interesting aspect about the disease is the fact that it may be found in a few females who suffer from Turner’s syndrome. It has also been seen that a few muscular changes in the affected children may be analyzed during the years of pregnancy within the fetus (Govan et al 1995). The condition tends to run in the family and more than half of the patients have a family history. Patients who do not show a family history indicate new genetic alterations that may have occurred. It is seen that females who are actually carriers do not show any problems associated with the disease. But they may show an increase in the levels of creatine kinase enzyme in their blood. Furthermore, at a later stage in their life, they may tend to develop enlargement of their heart (Robbins et al 2005). The disease is characterized by the absence of the protein dystrophin in the muscles. The dystrophin is associated with the normal functioning of the muscles and helps in the contraction of the muscle. The children who are born with this condition tend to appear normal at birth. These children tend to develop normally until the age of one and a half years. By the age of 3 years, the symptoms of the condition can be seen. The young infant tends to experience difficulties in walking. He may not be able to walk properly and would have a greater tendency to fall again and again at a young age. The muscles of the pelvis tend to get affected first and the disease goes ahead to affect the shoulder. The calf muscles of these patients are also increase in size which is due to the greater size of the muscles of the calf which is followed by replacement of the substance of muscle by fat. The muscles of the chest also tend to lose their normal function with age owing to the weakness. The chest wall tends to lose its normal structural integrity as well. The muscles of respiration also get involved and it becomes difficult to respire. It also tends to increase the risk of developing pathologies of the respiratory system which include bronchitis and pneumonia. The heart is also affected due to this condition and the normal functioning capacity of the heart becomes lost. The rhythm of the heart becomes disturbed. A few boys may also present with psychiatric issues which include dyslexia and problems with memorizing things. The patients do not have a very long life expectancy. They become totally unable to walk by the age of 12 years. Death ensues soon after the second decade of life due to problems of the respiratory and the cardiac system (Robbins et al 2005, Gilbert 2000). The diagnosis of the condition is based upon a family history followed by diagnostic procedures. This includes the checking of the levels of the enzyme creatine kinase which is found at increased levels in the serum of these patients. A muscle biopsy is also helpful. It shows the deviation of the muscles from their normal structure which includes the enlargement of the muscles or the presence of fatty tissue within these muscles. The ECG of these patients is also not normal (Robbins et al 2005; Gilbert 2000; Pfeiffer et al 1988). The disease does not have a definitive cure as yet and therapy is mainly aimed at improving the living and the quality of life of the patients. This includes the advice of proper exercise for the patients but it needs to be ensured that the exercise is not very difficult as it may further affect the muscles and lead to their breakdown. Physiotherapy is also important for the management of these patients. When the patient can no longer walk and move, a proper wheelchair should be prescribed so that the patient is not much dependent on people for his care. An electrical wheelchair is suitable as the muscles of the patients are very weak. The skin of these patients becomes weak owing to the reduction of the weight that occurs in these patients. Thus skin hygiene and care needs to be maintained. The patients should be sent to schools which have proper facilities for these children. The family needs to be provided support from the social workers as the condition may lead to stress within the family and the child who is affected (Gilbert 2000). The patients may also be prescribed with steroids for increasing the strength of the muscles. The aim of the treatment and management of patients suffering from the condition is to provide them increased quality of life. A research on patients who were taking steroid therapy and proper management indicated that the patients believed that they were leading a quality life. Hence proper available treatment options should be given for these patients (Simon et al 2011). Advancements in genetics provide for the only hope for the cure of this condition. There have been researches in animals which have provided for a ray of hope that a treatment on the basis of genetics may be significant for these patients. The problem with the incorporation of genes into humans is the fact that it will need to be incorporated into all the muscles of the body as well as the fact that an immune response would hence become inevitable (Robbins et al 2005). The disease still needs research as it was indicated in a research that the implantation of stem cells into a boy from the umbilical cord did not prove to be useful as his body did not promote the production of dystrophin (Kang et al 2010). The treatment for the disease requires many efforts. It can be analyzed that the treatment for the condition is not impossible as research can make this possible in a similar manner that the gene for this condition and the protein were identified (Emery 2000). Glossary Creatine Kinase: Enzyme which is released from the muscles owing to a pathology which affects the muscles. Duchenne: It is the name of the scientist who described the pathological condition of Duchenne Muscular Dystrophy Dystrophin: It is the protein that is product formed from the gene Xp21. It is essential for normal muscular function. Dystrophy: It is the condition in which the normal muscle fibers get replaced by fibrofatty tissue and become weak. ECG: It stands for electrocardiography which is a procedure to check for the normal functioning of the heart. Muscle biopsy: A muscle biopsy is a procedure where a sample of muscle is taken from the body for histological analysis Bibliography Top of Form Emery, Alan E. H. Muscular Dystrophy, the Facts. Oxford: Oxford University Press, 2000. Print. Bottom of Form Top of FormGilbert, Patricia, and Patricia Gilbert. A-z of Syndromes and Inherited Disorders: A Manual for Health, Social, and Education Workers. Cheltenham: Thornes, 2000. Print. Top of Form Govan, Alasdair D. T, Peter S. Macfarlane, and Robin Callander. Pathology Illustrated. Edinburgh: Churchill Livingstone, 1995. Print. Bottom of Form Bottom of Form Top of Form Guyton, Arthur C, and John E. Hall. Textbook of Medical Physiology. Philadelphia: Saunders, 2000. Print. Top of Form Kang, PB, HG Lidov, AJ White, M Mitchell, A Balasubramanian, E Estrella, RR Bennett, BT Darras, FD Shapiro, BJ Bambach, J Kurtzberg, E Gussoni, and LM Kunkel. "Inefficient Dystrophin Expression After Cord Blood Transplantation in Duchenne Muscular Dystrophy." Muscle & Nerve. 41.6 (2010): 746-50. Print. Bottom of Form Bottom of Form Top of Form Kumar, Vinay, Abul K. Abbas, Nelson Fausto, Stanley L. Robbins, and Ramzi S. Cotran. Robbins and Cotran Pathologic Basis of Disease. Philadelphia: Elsevier Saunders, 2005. Print. Levinson, Warren. Review of Medical Microbiology and Immunology. New York: McGraw-Hill Medical, 2008. Print. 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