Finding out your child has Duchenne muscular dystrophy (DMD) is incredibly challenging. You want them to get the best care possible. And you want them to be seen by people who have experience treating this condition.
At UVA Health Children’s, our neuromuscular specialists have deep experience with DMD. We can offer cutting-edge treatment options, like gene therapy. Here, we can help your family decide on the treatments that make sense for you and your child.
Treatment for Duchenne Muscular Dystrophy at UVA Health Children’s
With DMD, you’re seen in our pediatric neuromuscular department. If DMD is suspected, but not confirmed, we can confirm the diagnosis.
Because most treatments for DMD focus on slowing it down, it’s best to get treatment early.
Diagnosing DMD
DMD is caused by a genetic mutation. For most kids, a genetic test can help us diagnose it. A genetic test is also needed to pinpoint which specific DMD variant your child has. That way we can review which treatment option will work best for your child.
Sometimes, genetic tests don’t give us all the answers we need. If that’s true for your child, we’ll work through other diagnostic tests together.
Tests we may use:
- Creatine kinase blood test
- Genetic blood test
- Muscle biopsy
- Electrocardiogram
- Muscular function tests
Gene Therapy for DMD
In 2023, the FDA authorized gene therapy to treat DMD. At UVA Health Children’s, we’re excited to be able to offer this treatment option to your child.
Gene therapy is given through a 1-time infusion. That means the medicine will be given through an IV. In our child-friendly infusion room, we’ll help keep them occupied through the process. Once the whole treatment has been given, your child will not need another infusion. They will still need to come to follow-up appointments though, so we can monitor how they’re doing.
The gene therapy replaces the gene affected by Duchenne. While not a cure, gene therapy slows down DMD’s progression. In some kids, it has also improved muscle health.
Making Hospitals Safe and Welcoming
Child Life Professionals help make children’s hospitals, like UVA Health Children’s, safe and welcoming. When children have complex medical conditions, they can help explain it. They can also help make treatments, like infusions, less scary for kids.
Medical Management
Most cases of DMD are managed with medicines, like steroids, that slow the progression of DMD.
Duchenne Muscular Dystrophy Complications
Because DMD affects your whole system, it’s normal to have complications. As a children’s hospital, we’ll work with specialists to provide complete care.
Heart Specialists
Duchenne almost always causes a heart problem called cardiomyopathy. This makes it harder for the heart to beat. But our children’s heart specialists can give your child medicines that slow this down.
Physical Therapists
Physical therapy can help treat tightening muscles caused by Duchenne’s. With stretching exercises, physical therapists can help prevent some of that.
Spine Specialists
Scoliosis, or a curve in the spine, is a complication of Duchenne’s. Sometimes scoliosis can even affect breathing. Our spine specialists will help us with a treatment plan.
