Whether you have Duchenne muscular dystrophy (DMD) or are caring for a child who does, one of the hardest parts of treatment can be knowing whether it’s doing anything at all, especially when muscles are still getting weaker.
DMD is a genetic condition that almost always affects males. “A change in the gene for dystrophin, a protein that keeps muscle cells sturdy, means the body makes none of it, so muscles slowly break down and are replaced by scar tissue and fat,” says Jessie Nance, MD, a pediatric neurologist at Johns Hopkins Medicine in Baltimore.
Today’s treatments can’t stop or reverse that process, but they can slow it down, says Dr. Nance. That means the signs that a treatment is working usually look like a slower decline rather than improvement, and they often show up only over months or years, she says.
Here, find out what specifically you should look for to determine whether treatment for DMD is effective.
What ‘Working’ Means With Duchenne Muscular Dystrophy
Any conversation with families about a DMD treatment covers two things: whether it works and whether it’s safe, says Nance.
In DMD, a treatment that works still doesn’t stop the condition from progressing. Muscles keep getting weaker but at a slower rate than they would without it, she says.
“We’re at the point where the best option for us is that we’re slowing progression. We don’t really have any therapies in Duchenne right now that are available that will improve function,” says Nance.
Current treatments also don’t hold people stable over the long term, she says. “It’s a really small, gradual impact over time, and I think that is difficult for [patients and] families to see, and it’s difficult for us to measure,” says Nance.
With that in mind, here are the main ways you and your care team can determine how treatment is going over time.
1. Walking Abilities May Last Longer Than Expected
Corticosteroids, or steroids, are the standard treatment that doctors recommend for everyone with DMD, says Nance. They are thought to work by calming the inflammation that happens when fragile muscle cells are damaged, she says.
It may be hard to see the benefit in real time, but the goal is to help a child walk longer than they would have without the medication, she says. When a child starts a steroid at age 5 or 6, for example, no one can know exactly how that child would have progressed at age 10 without it, says Nance.
Even with treatment, people with DMD eventually face mobility challenges and lose their ability to walk; none of the currently available therapies prevent that, says Nance.
Steroids can also come with unpleasant side effects, including weight gain, behavioral changes, thinning bones, delayed puberty, and shorter height, she says.
