New And Upcoming Improvements To Diagnosing Muscular Dystrop

Danielle Magid

New and upcoming improvements to diagnosing Muscular Dystrophy1

Why early diagnosis is important

Muscular dystrophy is no joke; it is a combination of thirty genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. It can be detected in infancy or early childhood, while in some cases it may not be apparent until middle age or even later. The onset can be anywhere for three to five years of age, and with quick succession. DMD, Duchenne muscular dystrophy is considered one of the most frequently diagnosed from of muscular dystrophy. DMD mostly affects boys; however women can be carriers and give the defective gene to their children. This awful gene is due to a lack of dystrophin, which is a vital muscle protein that helps to retain the strength of muscle fibers. The reason why early diagnosis is so vital is because boys who carry this gene are unable to walk by the time they reach twelve years old, and last they might need a respirator to breathe. There is a 50% chance that women in these families could pass it on. The earlier the detection then there is a better possibility of treatment being effective.

Welcome EmArray Dystrophin

A new test has been developed to diagnose muscular dystrophy in young men and young women. This new test provides earlier and better accuracy as well as being more sensitive than test that already exists. Dr. Michel Zwick and Madhuri Hedge, both assistant professors in the Department of Human Genetics and the Emory Genetics Laboratory in the Emory University School of Medicine, uncovered this new test. The test is called EmArray Dystrophin, and it has the capability to expose ninety-nine percent of mutations in the dystrophin gene. In addition, this also includes deletions, duplications and point mutations. The way this test works is through the use of a new kind of microarray technology, hence the name of the test. By using this technology includes the entire sequence of the dystrophin gene, which is the largest known gene in humans. This test can verify Duchenne as well as Becker muscular dystrophy in males and characterize the type along with size of the mutation. The reason why this test holds importance is because it increases access to prenatal and carrier testing for women.

We must help ourselves

This test is important because none of us what our children to have to life through muscular Dystrophy. So why not get our children tested when they are young in order to prevent them from suffering any of the side affects of this disease. If the support is out there to help early treatment or prevention, then why not take advantage of it?