Health Alert | WCTV Eyewitness News: Tallahassee, Thomasville, Valdosta

Medical Minute 02-27

By: Eyewitness News Email
By: Eyewitness News Email

Passed from mother to son…Duchenne Muscular Dystrophy is the most common fatal genetic disease of children. One in 35-hundred boys is diagnosed with it. Over time, they lose more and more muscle, until their lungs or heart become so weak they die. But as Andrew McIntosh reports, a therapy that's been tested in dogs could change that.

Elijah Huynh is full of life but the four-year-old has a fatal disease Duchenne's Muscular Dystrophy. A genetic disorder that causes the muscles to weaken.

By age 12, boys like Elijah usually lose the ability to walk survival is rare beyond the mid-twenties. But there's new hope for families like the Huynh's. Through a technique called exon skipping, the specific mutation that causes Duchenne can be targeted…to help correct the defect.

So far the technique has been effective in dystrophic dogs. Before the treatment this dog had trouble walking. After treatment…you can see the puppy running. A safety trial in humans found the drug restored some muscle proteins that are absent or abnormal in people with MD.

Elijah's father plans on putting his boy in the exon skipping trials. And as a researcher at children's national…. The dedicated dad is working on other therapies for Duchenne's.


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