Running head: Duchennes muscular dystrophy Name: University: Lecturer: Date: Duchennes muscular dystrophy Outline of contents Contents page Abstract3 Introduction 4 Normal anatomy/physiology of the muscular system4 Symptoms of Duchenne muscular dystrophy5 Causes of Duchenne muscular dystrophy5 Diagnosis of Duchene muscular dystrophy5 Treatment of Duchenne muscular dystrophy6 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 dystrophin studies is done to check for abnormalities in the levels of dystrophin 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.
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... Duchenne MD is one of the most rapidly worsening types of muscular dystrophy and is caused by a defect in a particular muscle protein. Symptoms ... of the year. Duchenne Muscular Dystrophy and Its Progression Muscular Dystrophy is an inherited disease, which means it is passed through a person’s genetics. Duchenne muscular dystrophy is one ...
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).
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Larry Hood Project IV STEPS 2 & 3 Article 11. What is property P? Increase in brain activity 2. What is the sample? The 16 boys 3. What is the population? All children 4. What is the implicit question? Why is there a difference in brain function between normal kids and kids with ADHD. 5. What is not the implicit question? Do all children have a property p? 6. What type of argument? Sampling 7. ...
Causes of Duchenne muscular dystrophy Duchennes 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 dystrophin studies is done to check for abnormalities in the levels of dystrophin in the muscle. The dystrophin protein can be visualized by staining the muscle sample with special dye. The muscle which has average amounts of dystrophin 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 9th June 2009 from http://webschoolsolutions.com/patts/systems/muscle s.htm Mary Kugler, RN (2008).
Duchenne MuscularDystrophy. Retrieved on 9th June 2009 from http://rarediseases.about.com/od/musculardystrophy /a/duchennemd.htm Maryland Medicine (2003).Duchenne Muscular Dystrophy (DMD) Retrieved on 9th June 2009 from http://www.umm.edu/nervous/duchenne.htm Ncbi (ND. Duchenne muscular dystrophy Retrieved on 9th June 2009 from http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv. View..ShowSection&rid=gnd.section.161 Health canoe, (2009).
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VIKINGSEINHERJAR - THE CHOSEN ONES Kenneth Dunn History 115 Professor Gordon " Never before has such terror appeared in Britain as we have now suffered from a pagan race... Behold, the church of St. Cuthbert, spattered with the blood of the priests of God, despoiled of all its ornaments; a place more venerable than all in Britain is given as a prey to pagan peoples.' - Alcuin of York, in a letter ...
Muscular Dystrophy Retrieved on 9th June 2009 from http://chealth.canoe.ca/condition_info_details.asp ?disease_id=91 Genome ,2009 .Learning About Duchenne Muscular.
Retrieved on 9th June 2009 from Dystrophyhttp://www.genome.gov/19518854.
