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Project - Research Paper Example

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Duchenne muscular dystrophy is a recessive X-linked for of the muscular dystrophy that usually affects about in every 3,600 boys that results in muscle degeneration and eventual death (van Deutekom & van Ommen, 2003). The disease is caused by a mutation in the dystrophin gene…
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Download file to see previous pages Even though both sexes carry the mutation, the females rarely exhibit the signs of the disease.
The symptoms may be visible in early infancy and appear in male children before the age of 6. Laboratory testing can establish the children who carry the active mutation at birth (Dalkilic & Kunkel, 2003). At first, progressive proximal muscle weakness of the pelvis and legs that are associated with a loss in muscle mass. Eventually, this weakness spreads to the neck, arms and other areas. The early signs consist of enlargement of the deltoid and calf muscle, difficulties in standing without help, and low endurance. As the condition progresses, there is wasting of the muscle tissue. By the age of 12, most patients are usually dependent on the wheel chair. Symptoms that occur in the later stage include abnormal development of the bone that leads to deformities of the skeleton. As a result of muscle deteroriation, there is occurrence of the loss of movement, in the long run it leads to paralysis. The average life expectancy for the DMD patients is about 25 years.
The diagnoses of the disease include DNA testing, muscle biopsy, and prenatal tests. First, the muscle-specific isoform of the dysrtophin gene is made up of 79 exons. DNA tests and analysis determine the particular type of mutation of the exon (s) that is affected. Secondly, muscle biopsy entails extraction of a small sample of muscle tissue. A dye is then applied to reveal the presence of the dystrophin. Lastly, prenatal tests establish if the unborn child has the most common mutations. The X-linked recessive gene carries the DMD. Males have one X chromosome implying that one copy of the mutated gene will lead to DMD. The mutation is transferred by the mother since fathers cannot pass the X-linked traits to their sons. When the mother is a carrier, one of her X chromosomes has a DMD mutation. In that respect, there is 50 % chance that the ...Download file to see next pagesRead More
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