How can Duchenne muscular dystrophy be treated?

“What are the treatment options?” is often one of the first questions a parent or caregiver asks when a child is diagnosed with a form of muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a genetic disorder that causes the loss of muscle strength and muscle mass. Symptoms appear before the age of 6, and can include problems with motor skills, frequent falls, difficulty climbing stairs, or other signs of muscle weakness. Learning difficulties are also common. As DMD progresses, symptoms become more severe, leading to disability, cardiac problems, and other complications.

There is no cure for DMD, and treatment focuses on slowing the progression of the disease, improving quality of life, and controlling specific symptoms and complications that occur as a result of having DMD.

Standard therapies

Corticosteroid medications, physical therapy, and exercise will likely be a part of a treatment plan for DMD.

Corticosteroids

Also called glucocorticoids or simply “steroids,” corticosteroids are anti-inflammatory medicines that are used to treat a wide variety of diseases. For people with DMD, certain corticosteroids can help slow the progression of muscle loss and help maintain muscle strength.

Physical therapy

A person with DMD should work with a physical therapist. Physical therapy can help maintain muscle strength and avoid contractures—which occur when a muscle, tendon, or ligament becomes permanently fixed and shortened, restricting normal movement and function. Physical therapy also includes the use of orthopedic braces and assistive devices.

Exercise

In addition to physical therapy, exercise and staying active is important. Bed rest and inactivity can make symptoms worse. Exercise and activity can help maintain strength and muscle mass. Gentle exercise is recommended. A healthcare team can offer guidelines on what activities are safe.

Addressing specific symptoms

DMD is a progressive disease that gets worse over time, and a person with DMD will need to be monitored for changes and progression. Because DMD progresses differently for different people, a treatment plan will also be individualized to meet a person’s needs. A treatment plan may include:

• Medications, such as ACE inhibitors and/or beta blockers, for heart problems. There is also research that supports the idea that these medications can be given to prevent the onset of heart problems.
• Respiratory therapy, speech therapy, and therapy to address difficulties with chewing and swallowing
• Counseling on diet and nutrition to help prevent malnutrition and obesity
• Surgery to address contractures or scoliosis (curvature of the spine caused by weakened muscles)
• Working with mental health professionals and/or social workers

Exon-skipping drugs

Duchenne muscular dystrophy is caused by mutations to the DMD gene. This gene contains instructions for making a protein called dystrophin. Muscles depend on this protein for repair. Mutations to this gene cause the body to produce dystrophin that does not work. As a result, muscle tissues are easily damaged and cannot repair. They are gradually replaced with scar tissue and fat tissue.

The dystrophin gene includes 79 smaller components called exons. When a person has Duchenne muscular dystrophy, certain exons have mutations and others are normal. Genetic testing can determine which exons are affected.

Exon-skipping therapies use drugs that help cells skip over the mutated exons as they synthesize the dystrophin protein. This results in a dystrophin protein that functions better (though not perfectly). The goal of this therapy is to lessen the severity of Duchenne muscular dystrophy. (Keep in mind that this is a simplified explanation of a complex process.)

Several exon-skipping drugs are available, though they can only be used to treat cases of DMD that involve mutations to specific exons. More are under development.

Gene therapies

Gene therapy changes a person’s genes to treat disease. A disease-causing gene can be deactivated or replaced with a healthy gene. Or, a new gene can be introduced to help treat a disease. Gene therapy for DMD is not considered to be a cure, but it may slow disease progression and help kids build strength and endurance.

The U.S. Food and Drug Administration (FDA) approved the first gene therapy for DMD in 2023. Called delandistrogene moxeparvovec-rokl, it’s intended for treatment of certain 4- or 5-year-old children with the disorder.

Nonsteroidal medication

In 2024, the FDA approved givinostat for the treatment of DMD in children ages 6 and older who are able to walk. The oral medication works to slow the disease by helping to reduce inflammation and muscle loss.

Clinical trials and investigational therapies

Participating in a clinical trial may be a way to access therapies for DMD that are under development and otherwise not yet available. These can include other exon-skipping therapies as well as gene therapies. If clinical trials are something you are interested in, talk to your child’s healthcare team, who will be able to explain how clinical trials work, what to expect, and next steps.