The History Of Dmd Stemmed From The Progressive Muscular...

The coexistence of the uncommon disease known as Duchenne Muscular Dystrophy or DMD, has come to the attention of many and has manifested within this document to generalize the history, impact, and significance of the disease. The history of DMD stemmed from the progressive muscular dystrophy of two 10-year-old boys names Conte and Gonji in 1836. Since this becoming the first historical account of such a disease, many doctors and specialists speculated a more catastrophic form of tuberculosis; when revisited by scientists it was concluded that they suffered from the milder Becker MD. In 1852, Meryon reported in striking points of interest a family with four young men, every one of whom were influenced by huge muscle changes, however had no†¦show more content†¦As shown in Figure 1, this presents the most common scenario that is passed down to children since most people with the disease do not have a long enough life expectancy, and most females who get both affected X chromo somes by a carrier mother and affected father is very unlikely. The chart explains how the males who receive the disease get it from a carrier mother who is unaffected by the disease as the one affected X chromosome is masked by unaffected X chromosome; a task that the Y chromosome cannot achieve, thus making the male population inclined to receive it more likely than females. Figure 1 illustrates a more detailed Punnett Square depicts the common scenario. Duchenne Muscular Dystrophy is caused by a mutation of the dystrophin gene at locus Xp21, located on the short arm of the X chromosome. The DMD disease occurs primarily from frameshift mutations in the dystrophin gene. Just short of 70% of cases of DMD occur from deletion of the dystrophin gene, 10% of cases occur from the harmful addition of the gene. The remaining cases (that have medically been recorded), have occurred because of disastrous point mutations that change in the DNA sequence. Dystrophin is a pole molded cytoplasmi c protein and an indispensable part of a protein complex that associates the cytoskeleton of a muscle fiber to the encompassing extracellular grid through