Duchenne Muscular Dystophy essays

Duchenne Muscular Dystophy essays Pseudohypertropic muscular dystrophy, or Duchenne muscular dystrophy is an inherited disease whose symptoms include quickly progressive muscle weakness. This muscle weakness begins in the legs and pelvis and slowly affects the whole body. Duchenne muscular dystrophy only affects boys (girls are only affected on extremely rare conditions). A problem in this particular gene, the dystrophin gene, is known to result in a flaw in one single protein, dystrophin, which is very important in muscle fibers. Most affected individuals develop symptoms such as difficulty in walking, running, jumping, and rising from the floor at the age of one to three years. These individuals cannot walk as fast or as far as other children and will occasionally fall down. Other symptoms include fatigue, possible mental retardation, skeletal deformities in the chest and back, and muscle deformities, which include contractures of the heels and legs and pseudohypertrophy of the calf muscles. DMD patients become unable to walk by age eight to eleven and by the late teens or twenties life expectancy may be shortened due to the severity of the disease. Other signs of Duchenne Muscular Dystrophy include muscle wasting and cardiomyopathy. Muscle wasting, or atrophy, begins in the lower extremities and slowly progresses to the muscles in the shoulders and neck. This is followed by a loss of muscle usage in the arms and respiratory system. Cardiomyopathy is frequently seen in this disease, while congestive heart failure and irregular heartbeats are quite rare. In the later stages of DMD, respiratory disorders begin to appear. These disorders may include pneumonia and aspiration of food or fluid into the lungs. The risk of having an affected child, within the general population, is about 1 in every 3500 male births. A DMD diagnosis is made by a physician by way of a physical examination diagnostic test. During the exam, the doctor reviews both prenata...