What Are the Best Treatments for Duchenne Muscular …

Duchenne muscular dystrophy is a genetic, progressive condition that causes loss of muscle function over time. Its mostly seen in boys and men but can occur, often in a milder form, in girls, and is present at birth. While many new treatments are on the horizon, current treatment options for Duchenne may slow the progression of the disease and treat its symptoms, but cannot halt or reverse its course.

For decades, medications called steroids have been part of the standard of care for Duchenne. While these drugs have been shown to extend muscle function, including the ability to walk, they have many unpleasant side effects.

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Treating Duchenne means tackling all the problems that can arise from the 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 addressed.

In some cases, there may be a treatment available thats specific to the exact mutation causing your Duchenne. Current treatments may help prolong muscle function beyond what steroids can do, but so far, theres no evidence they have a dramatic effect on the course of the disease.

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Corticosteroids, referred to as steroids for short, are the main drug treatment for Duchenne. Among doctors who treat the condition, we all agree that steroids are the cornerstone of Duchenne management, says Vamshi K. Rao, MD, a pediatric neurologist and the codirector of the Muscular Dystrophy Association Clinic at Lurie Childrens Hospital in Chicago.

Thats because so far, steroids are the only treatment that has been shown to slow the course of Duchenne across the board. Steroid treatment has been shown to increase muscle strength, delay loss of walking ability by as much as two to three years, reduce the risk of scoliosis (sideways spinal curvature), and improve pulmonary (breathing) function in people with Duchenne, according to the Muscular Dystrophy Association.

Right now, there are two approved steroids for Duchenne: prednisone and Emflaza (deflazacort). Your doctor may prescribe either a daily regimen or a high-dose weekend regimen.

Steroids tend to have the greatest benefit in Duchenne when theyre started early in life, says Leigh Maria Ramos-Platt, MD, a pediatric neurologist and the director of the Muscular Dystrophy Association Neuromuscular Clinic at Childrens Hospital Los Angeles.

If I see a boy at 4 years of age and give him steroids, versus a boy with the same mutation at 10 and give him steroids, the boy that starts at 4 is most likely going to outwalk the boy that starts at 10, Dr. Ramos-Platt notes.

Theres disagreement about how early in life steroid treatment for Duchenne can safely be started. Its considered standard to start it by age 4 or 5, says Ramos-Platt, but starting at age 2 or 3 is more controversial. Usually, when I can convince parents to start younger, its when theyve already had a boy with Duchenne who stopped walking a lot younger than is typical, like age 7, she notes, referring to older brothers who also have Duchenne. So those are the parents who will say, lets start at 3 rather than wait until theyre 4 or 5.

Side effects of steroids can include weight gain, short stature, acne, mood and behavioral changes, and bone problems like osteoporosis and compression fractures. Regular spinal imaging may help identify vertebral fractures that dont immediately cause symptoms, and is considered appropriate for Duchenne, according to the Muscular Dystrophy Association.

Since the heart is a muscle, basically everyone with Duchenne develops heart problems eventually usually by their teenage years, and sometimes before this. Over time, what happens is that as it breaks down, it doesnt have the capacity to pump well, and it starts to get weaker and enlarges, says Dr. Rao.

The best, proactive approach to heart management in Duchenne is to start measuring heart function early, so that any changes in function are immediately known, says Rao. Thats a proactive diagnostic approach, he explains. The proactive treatment approach would be to lessen the workload on the heart as it starts to get weaker.

There are a number of drugs that can help reduce the hearts workload, including angiotensin-converting enzyme (ACE) inhibitors and beta-blockers. The decision to start a drug treatment for heart problems in Duchenne is usually made by a cardiologist, and tends to depend on that doctors approach rather than absolute guidelines.

For example, The heart doctors here are pretty aggressive. They start treatment at around age 7 for most boys with Duchenne, says Ramos-Platt.

Over time, Duchenne tends to weaken the muscles that control breathing. The aim of pulmonary care for the condition is to make breathing easier and make sure your body is getting the oxygen it needs.

Pulmonary function testing is the key to proactive management of breathing issues, says Rao. This involves simply blowing into a mouthpiece in a doctors office, which gives a measure of lung capacity and can be used to assess the loss of function over time.

Since breathing tends to be more difficult while we sleep, if you have reduced pulmonary function due to Duchenne, your doctor may recommend a sleep study to see how your breathing changes at night. Depending on the results, your doctor may recommend a supportive treatment to help you breathe while you sleep, such as aBiPAP (bilevel positive airway pressure)machine.If you are already using a device at night such as BiPAP, Rao notes, a sleep study is good for monitoring whether that BiPAP is giving you enough pressure to normalize your sleep breathing pattern.

Another treatment option for breathing problems is a cough assist device, which helps expel mucus from your airways. When your muscles are weak, it can make mucus stagnant and cause infection, explains Ramos-Platt. These devices may be used in tandem with chest percussion devices, which vibrate or hit your chest to help loosen mucus.

As breathing worsens in Duchenne, it may be necessary to wear BiPAP for longer periods, or to start using a mechanical ventilator which may involve a tracheostomy, in which a hole is created in your neck. This highly invasive, but sometimes life-sustaining, treatment is at one end of a whole gradient of how we treat lung function in Duchenne, Ramos-Platt notes.

Depending on your symptoms and course of disease, any number of other treatments may be warranted for Duchenne, including the following:

Exon skipping drugs These drugs are designed to partially resolve certain mutations that cause Duchenne, leading to some amount of functional dystrophin protein. But only a minority of people with Duchenne are candidates for them, and it remains to be seen whether 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, is key to maintaining as much strength and flexibility as possible, says Rao regardless of your disease progression or mobility status.

Scoliosis treatments Scoliosis, or sideways spinal curvature, is a common problem in Duchenne as muscle function worsens. Its important to monitor the progression of scoliosis both visually and by X-ray, says Rao. As it starts to change, you start to introduce scoliosis braces or vests, of different kinds and different materials, he notes.

Severe scoliosis sometimes warrants surgery, especially if the curvature of your spine negatively affects your heart function or breathing. But scoliosis surgeries can be pretty involved, and sometimes the rehabilitation can be prolonged, Rao cautions. The risk-benefit profile needs to be individualized.

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What Are the Best Treatments for Duchenne Muscular ...