Radio Shows | Duchenne Muscular Dystrophy - DMD | mp3 … wma … wav

One great fear for parents is having a child with a genetic disorder.

For parents of caucasion boys – one of the most common disorders is Muscular Dystrophy or MD. Today we’ll talk about a new treatment that offers those families great hope.

MD is a muscle wasting disease. Of the nine forms one of the worst is Duchenne’s Muscular Dystrophy or DMD. DMD is the result of genetic mutations on the X chromosome.

Unlike girls who have two X chromosomes, boys have only one and those with a defective gene don’t have another X chromosome to provide correct genetic instructions.

This particular gene is responsible for encoding a muscle structural protein called dystrophin.

People with DMD either do not make enough of it or they make defective ones.

Without a functional dystrophin, muscles cells die and are eventually replaced with fat and connective tissue.

Children with DMD appear healthy when they’re born until they start showing progressive muscle weakness that begins in the pelvis and legs and eventually affect all muscles.

Most kids show symptoms before age 5 and need wheelchairs by the time they’re 12. As the disease progresses, the muscles they use to breathe are affected and they usually die in their early twenties.

There is now hope in a new drug for kids with a type of DMD where a truncated dystrophin is made.

The drug called PTC124 overrides the mutation so the full length dystrophin protein is produced.

Therefore this drug actually corrects the defect that ultimately kills DMD patients.

So far PTC124 appears safe.