Duchenne muscular dystrophy, also known as DMD, is a progressive genetic condition that results in a loss of muscle function over time. It appears mostly in boys and men, but it can also occur, often in a milder form, in girls. The condition is present at birth, but symptoms usually appear in early childhood. While many new treatments are on the horizon, current treatment options for Duchenne muscular dystrophy may slow the progression of the disease and treat its symptoms, but they cannot stop or reverse its course.
For decades, medications called steroids have been part of the standard of care for Duchenne muscular dystrophy. While these drugs have been shown to prolong muscle function, including the ability to walk, they have many unpleasant side effects.
Related: What is muscular dystrophy?
Treating Duchenne muscular dystrophy means addressing all the problems that can arise from this condition, from muscle tightness to cardiovascular and breathing problems. Ideally, a multidisciplinary healthcare team will take many different approaches to ensure that all of your needs and concerns are met.
In some cases, there may be a treatment available specific to the exact mutation causing Duchenne muscular dystrophy. Current therapies may help prolong muscle function beyond what steroids can do, but so far, there is no evidence that they have a significant effect on the course of the disease.
Learn more about the doctors and other specialists who treat muscular dystrophy
Steroid treatment for Duchenne muscular dystrophy
Corticosteroids, abbreviated as corticosteroids, are the main drug treatment for Duchenne muscular dystrophy. Among physicians who treat the condition, “we all agree that steroids are the cornerstone of Duchenne management,” says Vamshi K. Rao, MD, a pediatric neurologist and director of the Muscular Dystrophy Association Clinic at Lurie Children’s Hospital in Chicago.
This is because, to date, steroids are the only treatment shown to slow the course of DMD across the board. Steroid treatment has been shown to increase muscle strength, delay loss of the ability to walk for up to two to three years, reduce the risk of developing scoliosis (a sideways curvature of the spine), and improve lung function (breathing) in people with muscular dystrophy, according to the Dystrophy Association. muscle (MDA).
Currently, there are two steroids approved for the treatment of DMD: prednisone (Deltasone) and deflazacort (Imflaza). Your doctor may prescribe either a daily regimen or a high-dose weekend regimen.
Stimulants tend to have the greatest benefit in Duchenne muscular dystrophy when it begins early in life, Maria Ramos Platt, MD, a pediatric neurologist and director of the Neuromuscular Dystrophy clinic at Children’s Hospital Los Angeles tells me.
“If you see a 4-year-old boy and you give him steroids, versus a boy who has the same mutation at 10 and you give him steroids, the boy who starts at 4 is more likely to outperform the boy who starts at 10,” notes Dr. Ramos Platt.
There is disagreement about how to safely start steroid treatment early in life. It’s considered normal to start at 4 or 5, Ramos Platt says, but starting at 2 or 3 is more controversial. “Usually, when I can get parents to start younger, it’s when they already have a Duchenne boy who has stopped walking at a much younger age than is normal, like 7 years old,” she notes, referring to older siblings who also suffer from this case . “These are the parents who would say, Let’s start at three instead of waiting until four or five.”
Side effects of steroids can include weight gain, short stature, acne, mood and behavior changes, and bone problems such as osteoporosis and compression fractures. Regular imaging of the spine may help immediately identify spinal fractures that are not causing symptoms and are considered appropriate for muscular dystrophy, according to the MDA.
Treatment of heart problems in Duchenne muscular dystrophy
Because the heart is a muscle, everyone with Duchenne muscular dystrophy eventually develops heart problems — usually in their teens, and sometimes earlier. “Over time, what happens is that when it breaks down, it doesn’t have the ability to pump well, and it starts to become weak and enlarged,” says Dr. Rao.
The best proactive approach to heart management in DMD, Rao says, is to start measuring heart function early, so that any changes in function are recognized right away. “This is a proactive diagnostic approach,” he explains. “A proactive treatment approach would be to reduce the workload on the heart as it begins to weaken.”
There are a number of medications that can help reduce the heart’s workload, including angiotensin-converting enzyme (ACE) inhibitors and beta-blockers. The decision to start drug therapy for Duchenne heart problems is usually made by a cardiologist, and tends to rely on that doctor’s approach rather than absolute guidelines.
For example, “cardiologists here are very aggressive. Treatment starts around age 7” for most boys with muscular dystrophy, says Ramos Platt.
Treatment of breathing problems in Duchenne muscular dystrophy
Over time, DMD tends to weaken the muscles that control breathing. The goal of pulmonary care for this condition is to make it easier to breathe and to make sure your body gets the oxygen it needs.
Lung function testing is key to proactive management of breathing problems, Rao says. This simply involves blowing into a mouthpiece in the doctor’s office, which gives a measure of lung capacity and can be used to assess loss of function over time.
Because breathing tends to be more difficult during sleep, if you have decreased lung function due to Duchenne muscular dystrophy, your doctor may recommend a sleep study to see how your breathing changes at night. Depending on the results, your doctor may recommend supportive therapy to help you breathe while you sleep, such as a BiPAP (bilevel positive airway pressure) device. “If you already use a device at night like the BiPAP,” Rao notes, a sleep study is useful “to monitor whether the BiPAP gives you enough pressure to normalize your breathing pattern during sleep.”
Another treatment option for breathing problems is a cough aid, which helps expel mucus from the airways. “When your muscles are weak, it can cause mucus to stagnate and cause inflammation,” Ramos Platt explains. These devices may be used in conjunction with chest clickers, which vibrate or bang your chest to help loosen mucus.
As breathing worsens, it may be necessary to wear a BiPAP for longer periods, or to start using a ventilator – which may include a tracheostomy, where a hole is created in your neck. This highly invasive, but sometimes life-saving treatment is at one end of “the entire gamut of how we treat Duchenne lung function,” Ramos Platt notes.
Other treatments for Duchenne muscular dystrophy
Depending on the symptoms and course of the disease, any number of other treatments for Duchenne muscular dystrophy may be warranted, including the following:
Skip Exon Drugs These drugs are designed to partially resolve some of the mutations that cause them, resulting in a certain amount of functional dystrophin protein. But only a minority of people with Duchenne muscular dystrophy are candidates for them, and it remains to be seen if they lead to functional improvements.
Physical therapy, stretching, and range-of-motion exercises Working with a physical therapist, and doing recommended stretches and exercises at home, Rao says, is key to maintaining as much strength and flexibility as possible — regardless of disease progression or motion condition.
Scoliosis treatments Scoliosis, or sideways curvature of the spine, is a common problem in Duchenne muscular dystrophy in which muscle function worsens. It’s important to monitor the progression of scoliosis, either visually or with X-rays, Rao says. “As you start to change, you start inserting chiropractors or vests, of different types and different materials,” he notes.
Severe scoliosis sometimes warrants surgery, especially if the curvature of the spine is affecting heart or breathing function. But Rao warns, “Scoliosis surgeries can be quite involved, and sometimes the rehabilitation period can be lengthy.” “The risk-benefit profile must be individualized.”
Related: Your Everyday Guide to Living Well with Muscular Dystrophy