How challenging is it to be diagnosed with Duchenne muscular dystrophy?
Dr. Hoffman: Duchenne muscular dystrophy is the most common genetic disease worldwide. The reason it’s so common and it affects all populations is that it’s such a large recipe, so it’s so easy to mess it up through mutation or some random events. The other thing is, even though it’s a genetic disease, most cases don’t have a family history, so it just appears in anybody’s family at an equal rate pretty much. Because of that, the nature of the disease is very devastating in that children are born normal, but then show weakness around kindergarten or first grade, and then lose gradually over the next 10 or 20 years most of the muscles in their body. It’s both common and devastating, affects all world populations, and while it’s genetic, it doesn’t really run in families. This has been a big target in studies, to try to both understand what causes the disease and try to develop therapeutics. 20 years ago was the first cloning of the human disease gene, and Duchenne muscular dystrophy was
