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Running head: Duchenne's muscular dystrophy Name: University: Lecturer: Date: Duchenne's muscular dystrophy Outline of contents Contents page Abstract 3 Introduction 4 Normal anatomy / physiology of the muscular system 4 Symptoms of Duchenne muscular dystrophy 5 Causes of Duchenne muscular dystrophy 5 Diagnosis of Duchenne muscular dystrophy 5 Treatment of Duchenne muscular dystrophy 6 References 7 Abstract Duchenne muscular dystrophy is a muscular condition characterized by muscle enlargement and rapid, progressive degeneration of muscles. Symptoms start showing up at the age of 2 - 6 years. Its symptoms include difficulty in walking, running and climbing. It is a genetic disease passed from one generation to the next.
It can be diagnosed by clinical diagnosis when muscles weaken, and when symptoms show early. A muscle biopsy for dystrophic studies is done to check for abnormalities in the levels of dystrophic in the muscle. Although much research no cure of the disease has been found yet. There isnt even an official way of preventing it. Introduction Duchenne muscular dystrophy is a muscular condition characterized by muscle enlargement and rapid, progressive degeneration of muscles. It is x-linked and all females affected only act as carriers.
But in males the disease shows up in the phenotype. The gene affected in the x-chromosome encodes a large protein (dystripin) which is necessary in muscle cells for structural support. Dystripin strengthens muscle cells by anchoring elements of the cytoskeleton to the surface of the membrane. Lack of it leads to permeability of the cell membrane.
Through it the extracellular components enter the cell, increasing the internal pressure making the muscle cell to explode and die (Ncbi ND). Normal anatomy / physiology of the muscular system Under normal circumstances, there are three types of tissues: The skeletal muscle, smooth/ viscera, and cardiac muscle. The skeletal muscle is the most dominant in the human body. It is the one responsible for movement. It is cylindrical in shape and has many nuclei. Viscera form layers in the digestive tract, bladder, various ducts, arteries, veins and other internal organs.
Cardiac muscles are contained in the heart tissue. The musculoskeletal system consists of bones and joints which unite it with the muscular skeletal system. Together they help in the body functions such as protection, support, formation of new blood cells, storage and leverage. In the musculoskeletal system there are tissues, bones, ligaments, cartilage, skeletal muscles, and tendons. Motion is made possible by the skeletal muscles which are attached to the bones by tendons (Patts, 2000) Symptoms of Duchenne muscular dystrophy A child with Duchenne looks normal at the infant stage.
The symptoms starts showing up at the age of 2 - 6 years. They include difficulty in walking, running and climbing. This is because the legs and the pelvic region weaken. The child may have difficulty in lifting the head or weakness in the neck. He may need help when getting up from the floor and afterwards walk with legs apart and the chest and stomach stuck out.
With time the disease eventually affects all the muscles of the body, including the heart and the lung muscles. As the child grows up, other symptoms may be noted such as fatigue, difficulty in breathing, heart problems, inability to walk and weakness both in the harms and hands (Mary 2008). Causes of Duchenne muscular dystrophy Duchenne's muscular dystrophy is a genetic disease passed from one generation to the next. When a mother has the defective gene all her male children will have a 50 % chance of getting the disease. Although the disease is present even during conception, its symptoms dont show until the child is about five to six years. (Maryland Medicine 2003) Diagnosis of Duchenne muscular dystrophy Duchenne muscular dystrophy can be diagnosed in different ways.
The patient should have a clinical diagnosis when a progressive symmetrical muscle weakens, and also if the symptoms show before the age of five years. A muscle biopsy for dystrophic studies is done to check for abnormalities in the levels of dystrophic in the muscle. The dystrophic protein can be visualized by staining the muscle sample with special dye. The muscle which has average amounts of dystrophic will appear after staining. Genetic testing on blood samples may be taken to check the DMG gene. (Genome, 2009) Treatment of Duchenne muscular dystrophy Mary, (2008) says that much research has been done but no cure of the disease has been found yet. There isnt even an official way of preventing it.
The use of prednisone has so far assisted in reducing loss of muscles, and it has helped improve strength and restore energy. Physical and occupational therapy maintains flexibility and control muscular contractions. Physical exercise such as aerobics and swimming are advisable. Speech therapy may be advisable for children with speech problems. In later stages the patient may need other devices like braces and wheelchair. In severe cases involving breathing difficulties, a tracheotomy tube may be placed in the trachea.
Some individuals may need a respirator. Most patients of this disease normally dont survive beyond the ages of thirty due to heart difficulties and birthing problems... Sources cited Patts, (2000). The Muscular System Retrieved on 9 th June 2009 from web Mary Kugler, RN (2008). Duchenne Muscular Dystrophy.
Retrieved on 9 th June 2009 from web Maryland Medicine (2003). Duchenne Muscular Dystrophy (DMD) Retrieved on 9 th June 2009 from web Ncbi (ND. Duchenne muscular dystrophy Retrieved on 9 th June 2009 from web Health canoe, (2009). Muscular Dystrophy Retrieved on 9 th June 2009 from web Genome, 2009. Learning About Duchenne Muscular. Retrieved on 9 th June 2009 from Dystrophy web
Free research essays on topics related to: skeletal muscles, muscle cells, duchenne muscular dystrophy, muscular system, genetic disease
Research essay sample on Running Head Muscular Dystrophy
