Director of Neurology Crystal Proud, MD, explains the signs and symptoms to look for in patients who may have Duchenne muscular dystrophy. In this video, Proud discusses the impact Children’s Hospital of The King’s Daughters has had on gene therapy and treatments discovered through clinical trials that have given hope to families impacted by Duchenne’s.
I'm Crystal Proud. I am a neuromuscular neurologist and the Director of Neurology at the Children's Hospital of the King's Daughters in Norfolk, Virginia. When we're thinking about signs and symptoms that would indicate um that we need to be thinking of Duchenne muscular dystrophy. We think about early motor development and the motor milestone that is most commonly considered is the time to walking. Now, many of our boys with Duchenne muscular dystrophy, they will walk on time, but they may walk on the later end of on time. And so maybe between 16 and 18 months. So they can just verge on motor delay or it may even be that they walk beyond 18 months. And so they do truly have a diagnosis of motor delay that should prompt consultation with a neuromuscular neurologist. If you have an older boy who is seen in clinic, there can be some simple tools and tests to do to be able to see if they may have some weakness as part of routine care. We recommend that you have a boy jump by the age of three, they should be able to get some air beneath their feet and if they're not, they should be evaluated in our comprehensive neuromuscular clinic, watching them get up from the floor if that is difficult for them or they're unable to do that. That would once again prompt a consultation with a neuromuscular neurologist. You know, we have participated actually in all of the major clinical trials for the SRP 9001 product that just got FDA approved for boys, ages four and five years old. And it has been amazing to see the boys that we dose now nearly three years ago, jumping riding bikes. These are things that boys with Duchenne have never been able to do. It's hard to put into words, what a difference gene therapy has made for my families and for my patients, especially in the world of Duen where there has been so much hope for so long and really not effective treatments. Even our standard of care treatment right now, which is corticosteroids does not really change the trajectory of that disease. You know, we're all hoping that this therapy is a life saver and that it is going to have longevity and it's going to completely transform the disease state. And I'm very optimistic that it will. But the families say to me, you know what, even if it gives me one more year with my kid, that's enough, you know, and I see that happening for sure.