There is no cure for DMD, but treatments can slow the progression of the disease and help improve quality of life.
Duchenne muscular dystrophy (DMD) is a chronic condition that causes a gradual loss of muscle mass and strength. There are multiple types of muscular dystrophy, and DMD is the most common type.
DMD develops when a genetic mutation prevents your muscle cells from making a protein called dystrophin. Your body needs this protein to keep your muscles strong and working properly. Without dystrophin, muscles become weaker over time.
Symptoms of DMD typically start in childhood. As the condition progresses, muscles all over your body weaken. There is currently no cure for DMD. Treatments focus on improving quality of life, managing symptoms, and slowing the progression of the disease.
Here are the typical treatments for DMD.
Corticosteroids such as prednisone, prednisolone, and deflazacort have been used as part of DMD care for decades.
Because the condition is rare, many studies on DMD treatment are small, but overall, research suggests that steroids can help slow the progression of DMD.
In a small 2023 study with 86 participants, researchers found that those who received corticosteroid treatment experienced slower disease progression and maintained some abilities longer than those who did not. Researchers also found an association between corticosteroid treatment and increased heart function, lung function, and arm strength.
Similarly, a
The 2018 results also suggested that deflazacort could delay the loss of certain abilities for 2 to 3 years longer than prednisone or prednisolone.
Gene therapy is a treatment approach that targets the genetic changes that cause a disease.
In
Elevidys contains the instructions that tell your cells how to make micro-dystrophin, which is a protein that acts like dystrophin to help prevent muscle breakdown and improve muscle stability and function. Elevidys uses an inactive virus to enter your muscle cells and then allows those cells to produce micro-dystrophin.
Although this treatment is FDA approved, it’s still in clinical trials to explore its long-term effects and safety.
Each gene in the human body contains the instructions to make a specific protein. Genes are made up of many tiny pieces called exons. The dystrophin gene is the largest gene in the human body, containing 79 exons.
If you have DMD, one or more of those 79 exons is missing or broken. That one genetic error interferes with the whole set of instructions for making dystrophin, meaning your body can no longer make the protein.
Exon-skipping treatments work by skipping over the damaged part of the gene. The rest of the exons can still work together to build a form of dystrophin.
Medications used for exon skipping are called antisense oligonucleotides (ASOs). The first one, Eteplirsen, was approved in 2016, and a few more have received approval since then. Each ASO addresses a specific genetic mutation.
Many mutations can cause DMD, and there is not yet an ASO available for every exon error. There are also some concerns about the safety and effectiveness of these medications. Research and clinical trials for ASOs are ongoing.
Physical therapy is an important part of DMD care. Over time, DMD results in a loss of muscle mass. A physical therapist can monitor changes in your muscle strength and mobility and help you develop an exercise and stretching plan to slow the progression of DMD. As a result, you may be able to maintain mobility and independence longer.
Like physical therapy, occupational therapy can help you maintain muscle function and delay DMD progression. Occupational therapy focuses on your fine motor skills to allow you to maintain more independence with daily tasks such as feeding yourself and getting dressed.
Occupational therapists help people with DMD and their families create supportive home, work, and school environments. An occupational therapist can also recommend tools or safety equipment for daily life and get you set up with mobility devices like braces, a walker, or a wheelchair.
A speech language pathologist (SLP) is another member of your DMD care team. As the muscles in your face and mouth weaken, speech and swallowing can become more difficult.
To help you with communication, an SLP may teach you exercises to strengthen the necessary muscles, ways to make your speech clearer, and methods to pace your breathing while speaking. They can recommend assistive devices for communication as well.
An SLP will also assess your swallowing ability. To help you eat and drink safely, they may recommend changing your swallowing technique or changing the texture of the foods and fluids you consume.
DMD weakens the muscles that control your breathing, so breathing becomes more difficult as the condition progresses.
Muscle weakness can lead to hypoventilation (slow, shallow breathing). As a result, you take in less oxygen, and carbon dioxide can build up in your body. A respiratory therapist can identify and treat hypoventilation early to help prevent or delay complications.
At some point, you may need to start using a bilevel positive airway pressure (BiPAP) machine, which helps you inhale and exhale more fully.
When you breathe in, a BiPAP machine increases the pressure to bring more air into your lungs. When you breathe out, it delivers a lower pressure to push air out. At first, you may need to use the BiPAP machine only when you’re sleeping. A respiratory therapist can monitor your daytime breathing and help you decide when to start using the BiPAP during the day.
Your risk of infection increases when the muscles you need for coughing get weaker. A respiratory therapist can get you set up with a cough-assist machine, which helps keep your lungs clear to reduce the risk of infection.
You might need surgery to help manage your DMD. Here are some procedures that your healthcare team may recommend.
Feeding tube placement
If swallowing is no longer safe or if you’re having difficulty eating enough to maintain your weight, your care team may recommend a feeding tube. This feeding method can help ensure that you get all the energy and nutrients you need.
A surgeon will place a feeding tube that can deliver liquid nutrition supplements directly into your stomach. Many people with DMD can still eat some food by mouth, but using a liquid supplement means you won’t feel pressured to meet all your nutritional needs through eating and drinking.
Spinal fusion for scoliosis
Scoliosis is a common complication of DMD. As your muscles get weaker, they provide less support for your spine, and it can start to curve. Scoliosis can be very painful, make it more difficult for you to move around, and affect your breathing.
A surgeon can perform a spinal fusion to address scoliosis. This procedure involves placing rods and screws to give structure to your spine.
Tendon release surgery
Muscle contractures are common in DMD. As you lose muscle mass, your muscles can shorten. As a result, your range of motion decreases, and you may experience pain and stiffness around your joints.
Your healthcare team may recommend tendon release surgery, during which a surgeon will cut the tight tendons. This procedure can increase your mobility and range of motion while reducing pain and tightness.
Corticosteroids are considered the first-line treatment for DMD, but they have many possible side effects, including stunted growth and loss of bone mass.
In 2023, the FDA approved a new type of anti-inflammatory medication called vamorolone (Agamree). This drug works like other corticosteroids but has fewer side effects. It’s starting to be used more widely in the United States and other parts of the world.
Ongoing research aims to improve exon-skipping treatments by changing the ASOs used in these therapies. Researchers are trying to change the structure of ASOs to make them more stable so that they last longer in the body and are more effective. Other research teams are developing ASOs that target the heart muscles to prevent or delay heart failure.
Another possible treatment that’s currently in clinical trials is SAT-3247. It’s an oral medication that helps the body build and repair muscles without relying on dystrophin.
Researchers have found that other proteins can also signal muscle stem cells to repair and regenerate muscle. SAT-3247 targets one of these proteins, called adapter-associated kinase (AAK1), to build new muscle cells. So far, it has shown a promising safety profile.
There is currently no cure for DMD, but treatments can help you manage the symptoms and improve your quality of life. Your DMD care team will typically include several specialists who can assess your needs and provide support.
Research into DMD treatments is ongoing, so new or improved treatment options may become available in the future.