Daniel Guillen, MD, discusses one of the most significant milestones in DMD: the loss of ambulation. Learn why this transition marks a major inflection point in disease progression and how it relates to respiratory function, heart health, and long-term outcomes.
What marks the major inflection point in the DMD disease trajectory?
Transcript
I think there are a couple of spots in which this becomes important. A handful.
Probably the one that families remember most clearly is when their children lose ambulation, the ability to walk. And that tends to happen historically between 8 to 10 years of age. But with current treatments and current data, it seems to be in the 12-year age range.
However, I would say with our newest treatments, we’re seeing some of these treatments push the ability to walk into later teenage years, depending on what combination of therapies we’re using and their newest data.
It seems like that’s going to be longer, but the loss of the ability to walk is a big inflection point for a couple of reasons. One is when the degree of weakness is to that level, then the breathing muscles start getting affected. Then we need to monitor more carefully into loss of strength when breathing. Brace for pneumonia.
When we’re approaching the loss of ability to walk, we start seeing more falls. And that can lead to fractures. And then around that age, definitely by 10 years of age or so, and even older, that’s when we start seeing more clear heart muscle disease, cardiomyopathy.
Unfortunately for Duchenne muscular dystrophy, the majority of boys passing away nowadays are not passing away because of this muscle weakness, but more so because of the heart disease and respiratory weakness.
And then the other point to think about is when they start declining for the first time, there is weakness. And there has been muscle rupture ever since prior to being born. But sometime in between 7 to 10 years of age, they were getting stronger year over year.
And then you start noticing them getting weaker year over year. And then you know that the loss of ability to walk is going to come within a few years from that.
