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Duchenne Muscular Dystrophy (DMD)

Medical Management

Medical management overview

Multidisciplinary care, including neuromuscular, cardiac, respiratory, endocrine, endocrinologic, nutritional, psychosocial, and orthopedic management, is recommended for people with DMD in order to manage the varied symptoms experienced by each person. In the last decade, a number of medications have also been approved by the US Food and Drug Administration (FDA) to treat DMD. The use of available treatments can help to maintain comfort and function and prolong life.

Medications

Current DMD management includes the use of various medications, as described below. The categories of medications for DMD include corticosteroids, gene therapy, exon skipping drugs, and therapies that promote growth and regeneration. A number of drugs have been approved by the FDA to treat DMD over the last decade. Understanding of the pathophysiological processes involved in DMD has prompted development of targeted medications. Most new therapeutics work by attempting to restore or replace dystrophin, minimize the inflammation that occurs in damaged muscle, or boost regenerative capability of muscle cells, among other strategies. FDA-approved therapies for DMD include:

Corticosteroids

Corticosteroids, such as prednisone, deflazacort, and vamoralone, are commonly prescribed to people with DMD to slow the progression of muscle weakness and delay the loss of ambulation (walking ability). Long-term side effects include weight gain, behavioral changes, growth suppression, bone loss, and cataracts.

  • Prednisone/Prednisolone: The oldest, and most well studied corticosteroid that is used to treat DMD.
  • Emflaza (deflazacort) Tablets and Oral Suspension - A corticosteroid indicated for treatment of DMD in patients 2 years of age and older. Deflazacort is a derivative of prednisone.
  • Agamree (vamorolone) - A synthetic steroid, which may cause fewer side effects than prednisone or deflazacort and is approved for the treatment of DMD in patients 2 years of age and older.

Therapies that attempt to restore dystrophin

Given the availability of mutation-specific guided treatments, it is critical for patients with DMD to undergo appropriate genetic testing prior to consideration of gene replacement therapy or exon skipping therapies.

Gene replacement therapy

Gene therapies for DMD use a modified virus (called a viral vector) to deliver a modified dystrophin gene into cells, leading to production of micro-dystrophin, a shortened dystrophin protein that can restore dystrophin functions in people with DMD. In short, the goal of gene therapy is to convert DMD into BMD.

  • Elevidys (delandistrogene moxeparvovec)– The first gene therapy approved for DMD. Elevidys is a single-dose adeno-associated virus (AAV)-based gene therapy indicated for the treatment of patients 4 years or older who have a confirmed mutation in the DMD gene and are ambulatory. People with certain mutations (exons 8 or 9 deletions) or who have antibodies to the adeno-associated virus are ineligible to receive Elevidys.

Exon skipping therapy

These drugs promote skipping over a section of genetic code (known as an “exon”) to avoid the DMD gene mutation, allowing the body to produce a truncated, but functional dystrophin protein. As with gene therapy, the goal of exon skipping is to convert DMD into a milder BMD form of muscular dystrophy. Exon skipping therapies are typically made of bits of genetic material, known as anti-sense oligonucleotides (ASOs).

  • Amondys 45 (casimersen) – An ASO indicated for treatment of patients with DMD amenable to skipping exon 45.
  • Viltepso (viltolarsen) - An ASO indicated for the treatment of patients with DMD amenable to skipping exon 53.
  • Vyondys 53 (golodirsen) - An ASO indicated for the treatment of patients with DMD amenable to skipping exon 53.
  • Exondys 51 (eteplirsen) - An ASO indicated for the treatment of patients with DMD amenable to skipping exon 51.

Therapies that promote muscle growth and regeneration

  • Duvyzat (givinostat) - A histone deacetylase (HDAC) enzyme inhibitor approved for the treatment of DMD in patients 6 years of age and older. By inhibiting HDACs, Duvyzat mitigates muscle inflammation and fibrosis, slowing DMD disease progression and potentially increasing muscle mass and reducing improper death of muscle tissue (necrosis).

Physical and occupational therapy

Physical and occupational therapy programs are essential components in the treatment for DMD. Broadly, physical therapy deals with “big muscle” function, such as ambulating and preserving range of motion, and strength of large muscles. Occupational therapy, on the other hand, deals with “fine motor” function, like daily activities such as preparing food and feeding oneself, dressing oneself, or carrying out toileting and grooming routines. A person’s doctor will refer to a physical and/or occupational therapist for a thorough evaluation and recommendations. The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures and scoliosis (see below).

Contractures

Physical and occupational therapists work hard to minimize the impact of contractures. As muscle deteriorates, a person with DMD often develops fixations of the joints, known as contractures, which can be thought of as scar-like changes of muscle. The impact of contractures in DMD can be minimized significantly by keeping the body as flexible, upright, and mobile as possible. There are several ways to do this. Without proper treatment, contractures will become severe, causing discomfort and restricting mobility and flexibility. Contractures can affect the ankles, knees, hips, feet, elbows, wrists, and fingers.

There are many ways to minimize and delay contractures. Range-of-motion exercises, performed on a regular schedule, may help delay contractures by keeping tendons from shortening prematurely. A physical therapist can inform patients on how to correctly perform range-of-motion exercises.

Braces on the lower legs also can help keep the limbs stretched and flexible, delaying the onset of contractures. When contractures have advanced but strength remains strong, surgery may be performed to relieve them. A tendon release procedure, also called heel cord surgery, is often done to treat ankle and other contractures while a child with DMD is still walking. Usually, the child will need to wear lower leg braces after this procedure.

Spinal curvatures (“scoliosis”)

Spine problems are also common in boys with DMD. As they grow older, the spine can be gradually pulled into a curved shape. The spine may curve from side to side (scoliosis) or forward in a “hunchback” shape (kyphosis). Scoliosis usually appears after a boy has started using a wheelchair full time. The “swayback” curvature that's sometimes seen in those who are still walking is called lordosis. Severe scoliosis can interfere with sitting, sleeping, and even breathing, so measures should be taken to try to prevent it.

Exercises to keep the back as straight as possible and advice about sitting and sleeping positions can be obtained from a physical therapist. Ensuring appropriate and adequate back support in one’s wheelchair is a great way to minimize and potentially prevent scoliosis. Spine-straightening surgery involves inserting metal rods with hooks into the spine. Though less common now, surgery for youngsters with DMD, if indicated, is usually performed in adolescence.

Assistive devices

Mechanical aids (e.g., canes, braces, and wheelchairs) are often prescribed to ensure safe mobility and independence in people with DMD. Braces, also called orthoses, support the ankle and foot, or may extend up over the knee. Ankle-foot orthoses (AFOs) are sometimes prescribed for night wear to keep the foot from pointing downward and keep the Achilles tendon stretched while the child is sleeping.

Standing for a few hours each day, even with minimal weight bearing, may promote better circulation, healthier bones, and a straight spine. A standing walker or standing frame can assist people with DMD to stand. Some wheelchairs will raise the user into standing positions.

As muscles get weaker, many boys begin using canes, scooters, or wheelchairs to move around safely, typically by the early teenage years. Unless there is an injury, such as a broken leg, wheelchair use is usually gradual. At first, many people use wheelchairs for long distances, such as at school or the mall, and continue to walk at home. As DMD progresses, use of wheelchairs and other assistive devices promotes safe mobility and independence for many affected people.

Other mobility and positioning aids can help parents and caregivers. Among the simplest aids is a transfer board for helping to move a person in and out of a wheelchair. Mechanical lifts, shower chairs, raised toilet seats, and electronic beds are also useful.

Exercise

Exercise is different for everyone. For most individuals without muscular dystrophies, weight-bearing exercises can help build skeletal muscle, keep the cardiovascular system healthy, and contribute to feeling better. For individuals with DMD, stretching, range of motion exercises, and gentle minimal-weight bearing activities can be considered healthy exercise. In DMD, too much exercise can damage the already vulnerable muscle. A person’s doctor can help determine how much exercise is best. While a person with DMD may be advised to exercise moderately, they should not exercise to the point of exhaustion.

Many experts recommend swimming and water exercises (aquatic therapy) as a good way to keep muscles as toned as possible without causing undue stress. The buoyancy of the water removes the “gravity” component of resistance, and helps protect against certain kinds of muscle strain and injury.

A cardiac evaluation is often recommended before undertaking any exercise program.

Cardiac care

Heart care is also very important. It is recommended for people with DMD to have a complete cardiac evaluation (including assessment of cardiac biomarkers, an electrocardiogram, and noninvasive imaging) by a specialist beginning in early childhood and again at least every other year until age 10. After that, the evaluations are generally scheduled every year or at the onset of symptoms of heart weakness, such as fluid retention or shortness of breath.

Female carriers of DMD are at higher-than-average risk of developing cardiomyopathy. Female carriers typically undergo a complete cardiac evaluation in their late adolescence or early adulthood, or sooner if symptoms occur. The evaluation may include cardiac MRI and is usually repeated at least every five years, or more frequently if indicated.

Treatment with angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARB), beta blocker, aldosterone antagonists, and SGLT-2 inhibitors can slow the course of cardiac muscle deterioration in DMD if the medications are started early. Some data suggest that corticosteroids may delay the onset of cardiomyopathy.

Respiratory care

As the muscles that assist in breathing get weaker, the respiratory system must be adequately supported. Support of the respiratory system can be thought of in two ways: (1) keeping the bronchial system free of secretions, either by using a cough assist device or by manual assisted coughing and (2) addressing hypoventilation with ventilator supported breathing, such as with a BiPAP device. Respiratory therapists and/or pulmonologists are commonly consulted. At some point, assisted ventilation may be needed to help provide sufficient air flow into and out of the lungs.

The first step in using assisted ventilation is usually a noninvasive device, meaning one that does not require any surgical procedures. The person receives air under pressure through a mask, nosepiece, or mouthpiece. Typically, noninvasive ventilation is initially required only part time, often only during sleep.

If round-the-clock ventilatory support becomes necessary, it is possible to use noninvasive ventilation full time, under the care of a doctor knowledgeable in this practice. Some young men choose to switch to an invasive system, which means that a surgical opening called a tracheostomy is performed, allowing air to be delivered directly into the trachea (windpipe).

Cognitive and behavioral disorders

It is known that individuals with DMD are at a higher likelihood of having neurocognitive disorders, such as autism spectrum disorder, intellectual disability, attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety, and depression. As such, children with DMD who are suspected of potentially having such differences should be evaluated by a developmental or pediatric neuropsychologist, either through their school system’s special education department or their medical center. If such a diagnosis is made, appropriate management and treatment should be considered to support each child individually to allow the child to best learn and succeed.

Nutrition

While no specific dietary restrictions or additions are recommended in DMD, individuals with DMD might be advised by their doctors to maintain “high-protein, low-carb” diets. Such diets may prophylactically support muscles and mitigate the risks of metabolic syndrome, especially in people with DMD who are using high dose corticosteroids or experiencing decreased caloric expenditure with progression of disease. Some experts suggest the intake of dietary calcium and vitamin D in the form of dairy products, other foods rich in calcium, supplementation, and sunshine exposure to best support maintenance of strong bones. Depending on the circumstances and the treatment route, people with DMD are at risk of both obesity and malnutrition at different stages of the disease. It is recommended patients see a nutritionist/dietician at every clinic visit.

For boys who use power wheelchairs, take corticosteroids, or are not very active, excessive weight gain can become a problem. Obesity puts stress on already weakened skeletal muscles and the heart. In some cases, caloric intake restrictions may be prescribed to keep weight down. Individuals taking corticosteroids and those with heart problems may benefit from a sodium-restricted diet.

A combination of immobility and weak abdominal muscles can lead to severe constipation. A diet high in fluids and fiber, including fresh fruits and vegetables, may help address this issue. If dietary modifications are inadequate to control constipation, medications can be used to make stooling more manageable. People with DMD may also develop dysphagia (difficulty with swallowing). When dysphagia is suspected, they are typically referred to a speech and language therapist for swallowing assessment.

In the case that an affected person experiences weight loss, dehydration, malnutrition, aspiration, and moderate or severe dysphagia, they may need a gastrostomy tube (a feeding tube inserted directly into the stomach) to ensure adequate caloric intake.

Other considerations

Immunizations

It is generally recommended for children with DMD to receive all vaccinations recommended by the US Centers for Disease Control and Prevention. Before initiation of corticosteroids, it is recommended that patients receive all “live” vaccines, as they are contraindicated in those receiving high-dose daily corticosteroids. For annual vaccination updates, affected people are typically advised to follow routine CDC-guidance.

Anesthesia

People with DMD may have unexpected adverse reactions to certain types of anesthesia. It is important that the anesthesia and surgical teams know about their DMD so that complications can be avoided or quickly treated. Also, people with DMD should have preoperative evaluations by pulmonary, anesthesia, and cardiac specialists prior to any surgery.

Additional reading

The treatments and standard of care available to people with DMD are constantly evolving. Consensus-based care recommendations developed by physician and scientist experts in DMD are available to guide physicians in evidence-based treatment of people living with DMD.

Resources for people with DMD can be found at MDA’s Resource Center.

Last reviewed May 2025 by Stephen Chrzanowski M.D., Ph.D.

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