Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Duchenne muscular dystrophy


Other Names for this Disease

  • DMD
  • Muscular dystrophy, Duchenne
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Is there treatment available to cure Duchenne muscular dystrophy or slow the progression of symptoms?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Duchenne muscular dystrophy be treated?

There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life.[1] Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medications and in severe cases a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night.[2]

 

Physical activity is encouraged for individuals with Duchenne muscular dystrophy. Physical inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself.[1]

 

Steroids are usually given to individuals with Duchenne muscular dystrophy to help improve the strength and function of muscles. There are a few different steroids that can be used to treat DMD:[2]

 

  • Prednisone is a steroid that has been shown to extend the ability to walk by 2 to 5 years. However, the possible side effects of prednisone include weight gain, high blood pressure, behavior changes, and delayed growth.
  • Deflazacort (another form of prednisone), is used in Europe and believed to have fewer side effects.
  • Oxandrolone, a medication used in a research study, also has similar benefits to prednisone, but with fewer side effects.

Cyclosporine
has also been used as a treatment for DMD, and has improved muscle function in children. Although, its use is controversial because it can cause myopathy, which is a muscle disease that causes muscle weakness.

 

There are several other therapies that are also being researched, including exon skipping drugs, coenzyme Q10, idebenone, glutamine, and pentoxifylline.[2]
Last updated: 11/4/2013

Is there any research being done for other potential treatments?

Currently, there are multiple clinical trials that are testing the safety and effectiveness of various treatments for Duchenne muscular dystrophy. These treatments are currently being studied and are not yet available for use outside of a research setting.

 

Exon skipping drugs are currently being researched as a treatment option for DMD. This treatment is designed to get the muscle cells of individuals with Duchenne muscular dystrophy to produce the missing protein, called dystrophin. Many different pharmaceutical companies (GlaxoSmithKline, PTC Therapeutics, and AVIBioPharma) are working on developing different versions of this treatment. The different names that have been used for these drugs are PRO051 (GSK2402968), PTC124 (ataluren), and eteplirsen. The type of mutation an individual has will determine if an individual is eligible for this exon skipping treatment. This type of treatment is expected to be approved in 2014.[3][4][5][6]

 

Another type of treatment is Coenzyme Q10, which is an antioxidant that can be used in addition to prednisone (a steroid) to help improve the symptoms of DMD. Multiple studies have shown an increase in muscle strength when using this treatment.[7][8]

 

Also, a small study was done to look at the effectiveness of the use of idebenone therapy in children. This treatment was safe and well tolerated and seemed to help improve the symptoms of DMD.[9]

 

There is also another treatment that will soon be studied in clinical trials. This treatment combines three medicines, sildenafil, spironolactone, and ibuprofen. This combination of medicines was found to reduce the severity of DMD in mice.[3]

 

Two other treatment options for DMD have been studied but neither of these has improved symptoms. One treatment is called pentoxifylline, which helps improve circulation of blood in the body. The other treatment is with glutamine, which is an amino acid essential for muscle strength. Further research may be done to find out ways to make these treatments effective.[10][11][12]
Last updated: 11/4/2013

Where can I learn more about current research into treatments for Duchenne muscular dystrophy?

ClinicalTrials.gov lists trials that are studying or have studied Duchenne muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

The DuchenneConnect Profile provides a patient registry for individuals with Duchenne muscular dystrophy. This resource gives people access to information about new treatments and trials, services like genetic testing and counseling, and regional and local resources for patients and their families.

In addition, the Muscular Dystrophy Association (MDA) MDA offers quality medical care from doctors, nurses and therapists experienced in dealing with neuromuscular diseases at 225 hospital-affiliated clinics. These clinics also serve as sites for clinical trials of the latest experimental therapies and drugs. You can contact the MDA directly for more information. 

Muscular Dystrophy Association (MDA) - USA
National Headquarters
3300 E. Sunrise Drive
Tucson, AZ 85718
Toll-free: 800-344-4863
Web site: http://www.mdausa.org

Last updated: 11/4/2013

References
Other Names for this Disease
  • DMD
  • Muscular dystrophy, Duchenne
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.