Duchenne muscular dystrophy (DMD) is an inherited muscle disease that causes weakness and atrophy (thinning of the muscles) throughout the body. This condition cannot be cured, but treatment may help slow muscle atrophy and alleviate some of the effects of the disease.
Treatment for DMD includes corticosteroids, gene therapy, and medications. Supportive devices can help alleviate the effects of DMD on the heart and lungs. Duvzyat, a treatment approved in 2024, has been shown to help slow muscle damage in DMD.
This article discusses treatment options for Duchenne muscular dystrophy, including medications, gene therapy, and assistive medical devices.
Duchenne Muscular Dystrophy Treatment Options
Therapeutic interventions to treat DMD include treatments that help slow muscle degeneration and medications that help alleviate the effects of DMD on the heart. Additionally, support equipment can help manage the effects of DMD on movement, breathing, swallowing, and digestive systems.
Some treatments are used to modulate gene activity in DMD to reduce the body's production of harmful substances that damage muscles.
drug
DMD treatment medications include treatments that help slow muscle loss and those that manage medical complications.
Drugs that may be prescribed to treat DMD include:
- Duvyzat (gibinostat): This drug is taken twice a day with food and prevents muscle damage caused by DMD by suppressing the production of inflammatory proteins.
- corticosteroids: This medication is used to reduce inflammation and helps prevent muscle damage in DMD. Corticosteroids also help optimize muscle function.
- Angiotensin-converting enzyme (ACE) inhibitors: This drug is used to regulate heart function and treat DMD. This class of drugs may also help protect the heart against cardiomyopathy (enlarged heart), a disorder that occurs as a complication of DMD-related heart muscle damage.
- beta blocker: This medication helps stabilize and regulate heart function when cardiomyopathy occurs due to DMD by slowing the heart rate and increasing the pumping ability of the heart muscle.
gene therapy
DMD is caused by genetic changes. To treat this, treatments that interact with the body's genes have been developed. None of these are curative, and each is used only when genetic testing shows specific changes that may indicate a good response to treatment.
Drugs that interact with genes in the treatment of DMD include:
- Translator (Ataluren): This medication is used to prevent the body from using the wrong part of the gene that produces dystrophin (a protein that helps connect muscle fibers). This helps promote healthy production of dystrophin. This medication is taken by mouth daily.
- Amondis 45 (Cashmersen): This drug interacts with the dystrophin gene, causing the body to skip section 45 of the dystrophin gene, which helps produce dystrophin if that section of the gene is defective. Amondys 45 is used as a weekly intravenous (IV) infusion.
- Exondys 51 (eteplirsen): This is a treatment that induces skipping of part 51 of the dystrophin gene and helps produce dystrophin if that part of the gene is defective. Exondys 51 is used as a weekly IV infusion.
- Vyondys 53 (Golden Earth), Viltepso (Vito's Lark): This drug interacts with gene-directed protein production by causing protein-generating structures to skip section 53 of the dystrophin gene. This allows some production of dystrophin. Both are used as weekly IV infusions.
One type of gene therapy for DMD is the injection of genes that direct protein production. Elevidis (delandistrogene moxeparvovec) This is a gene that produces a short protein similar to dystrophin. It is given as a single IV infusion.
Is DMD treatable?
There is no cure for DMD. This genetic disorder is caused by a genetic defect in the gene that codes for dystrophin, a protein that helps prevent muscle fibers from breaking down.
Corticosteroids and Dubizate help prevent muscle fiber damage, and gene therapy can improve dystrophin production. However, these treatments cannot completely prevent muscle degeneration in DMD.
How to Qualify for Clinical DMD Treatment
Genetic modification is a new DMD treatment option that focuses on repairing or correcting genetic defects that prevent the body from producing healthy dystrophin.
Several different mutations (genetic changes) are known to cause DMD. Not everyone with DMD has the same genetic mutation. Several different mutations in the dystrophin gene have been identified in association with DMD.
Testing can determine which genetic mutations you have. Your test results will help determine which treatments could potentially help you.
The variety of medications and treatments is also limited by age, progression of muscle damage, and other treatments taken. Your health care provider will evaluate these factors before recommending treatment.
treatment cost
The direct and indirect costs of treating DMD and providing the necessary support can be high. Adults and caregivers of children with DMD may benefit from consulting with a social worker on their health care team to determine if they are eligible for Medicaid or the Children's Health Insurance Program (CHIP). A social worker may also be able to help you access support programs.
Supported DMD medical devices
Living with DMD means your muscles become weaker, even with currently available treatments. You may need medical devices to maintain optimal mobility so you can get around and prevent complications such as muscle contractions.
Medical devices you may need include:
- muscle support: DMD may cause stretched muscles, contractures (shortening of the muscles and tendons around the joint), or a combination of the two. Muscle braces that hold the limb in place may help prevent complications.
- back of a chair: Muscle weakness caused by DMD can make it difficult to support your body while sitting or standing, resulting in a hunched or tilted posture. This can cause problems such as scoliosis (abnormal curvature of the spine), nerve compression, and muscle contractures. Using a back brace to support your body can help prevent these complications.
- pedestrian: DMD muscle weakness may limit muscle strength, making it possible to walk using a walker.
- bathchair: If you are unable to stand or walk on your own, you may need to use a wheelchair to get around.
In addition to these devices, complications related to breathing or absorption and digestion of ingested food may also occur. Breathing support may be required. You may also receive breathing exercises using an incentive spirometer to help optimize the strength of your breathing muscles.
In some situations, severe intestinal obstruction can be a risk and may require the use of a feeding tube if the digestive system is severely affected by DMD.
Complementary treatments for symptom management
There is no evidence that supplements or other complementary therapies improve or prevent muscle weakness in DMD.
You may need to take dietary supplements if you are unable to eat an adequate diet due to limitations related to chewing, swallowing, or constipation. Doing so may help prevent malnutrition or excessive weight loss.
Additionally, meditation, controlled breathing, mindfulness, and exercise can help you manage your emotions, reduce stress, and maintain peak physical performance while living with the effects of DMD.
Find a DMD treatment team
Living with DMD requires you to have a health care team who can take care of all your health needs and provide practical guidance for your daily needs. disease.
It may be beneficial to work with an interdisciplinary team that includes physicians, physical therapists, occupational therapists, respiratory therapists, nutritionists, genetic counselors, and social workers.
You may also benefit from joining a support group so you can meet other people living with DMD. Becoming part of a community can help you understand that you are not alone.
Members can listen to you, suggest practical strategies for living with your condition, and also provide opportunities to provide support to others in need. Your loved one may also benefit from a DMD caregiver support group.
summary
Treatment for DMD includes medications, gene therapy, and other interventions such as physical therapy and occupational therapy to help maximize everyday abilities.
Gene therapy is one of the new treatment options for DMD as it is used to modify dystrophin production to prevent muscle destruction. Current gene therapy may help improve DMD symptoms and delay disease progression, but is not a cure.
Additionally, several different genetic changes cause DMD, so gene therapy is not uniform. Genetic testing can help guide treatment options.