Muscular Dystrophy Essay

2030 Words 9 Pages
Muscular dystrophy refers to, not one, but a group of muscle diseases. These diseases have three features in common: they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne muscular dystrophy (DMD) is the most prevalent and severe childhood form of this group of diseases.
Each form of muscular dystrophy is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of genetic material is missing in Duchenne muscular dystrophy patients. They named it for Guillaume Benjamin Amand Duchenne(1806-1875), a French neurologist who was one of the first doctors to discover and study the disease. When functioning properly, the Duchenne gene carries
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This is why DMD usually only affects males, with rare exceptions. Men with DMD will pass on the defective gene to their daughters, making them carriers, but never to their sons. A carrier has a 50% chance of passing the gene for DMD to her daughter, who will also become a carrier. The son of a carrier also has a 50% chance of being affected (see Fig. 4). Mothers of boys who have DMD are not necessarily carriers. The child could have been affected by a new mutation.
Duchenne muscular dystrophy, being an inherited disease, is present from the very first stages of fetal development. Yet, at the time of birth there is no physical indication that there is anything abnormal. It isn’t until between the ages of 18 months and 4 years that developmental problems start to become apparent. Usually, the first signs parents notice is that the affected boy starts walking at a later age than average. DMD boys tend to fall down more often, have difficulty getting up from the floor and climbing up stairs. They also develop a tendency to walk on their toes. Affected boys are unable to keep up with normal children their age and are considered clumsy. By the age 3 to 5 years, generalized muscle weakness becomes more obvious. Weakness and wasting usually begins in the iliopsoas, quadriceps and gluteus muscles and soon spreads to involve the anterior tibial group. In upper limbs, the costal origin of pectoralis major, the latissimus dorsi, the biceps,

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