Research Paper On Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a one type of muscular dystrophy. Muscular dystrophy is a group of genetic disorders, leading to progressive muscle degeneration. People suffering from most common muscular dystrophies ,Duchenne/Becker (DMD), Myotonic (MMD), and Limb-Girdle (LGMD), experience muscles degradation overtime, leading to overall muscle weakness and decreased mobility. Statistics show that the most prevalent forms of muscular dystrophy are rare. For example in 2007 in the United States, for every 100,000 males aged 5-24 years, 15 had Duchenne MD (0.015%). In the year 2009 in Northern England, for every 100,000 males, 16 had DMD (0.016%). DMD affects males before the age of 5 due to a gene mutation on the X chromosome, thus causing males to be more at risk. The gene mutation prevents the translation of the protein dystrophin …show more content…
The gene represents 0.08% of the human genome. The dystrophin gene represents 2.5 megabases worth of data. One mega base pairs (mbp) equals 1,000,000 bp. Additionally, the primary transcript for dystrophin is around 2,400 kilobases. One kilobase (kb) equals 1000 base pairs of DNA or RNA. Early diagnosis of DMD is the best current treatment for the disease. There is no cure for DMD. There is little data collected on the disease since it is rare and is one type of muscular dystrophies many forms. Symptoms are seen through motor delays in childhood development. DMD main symptom is increased muscle-weakness overtime. Each case of DMD is different. The first muscles that weaken are usually the upper arms and upper legs. Early identification by medical professionals of DMD allows children to gain assess, knowledge, and resources for living with the disease. New gene therapies are the new frontier for DMD treatment. One new form of gene therapy called exon skipping, has been designed to repair the primary genetic