Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Muscular dystrophy, Duchenne
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
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Duchenne muscular dystrophy
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Is there treatment available to cure Duchenne muscular dystrophy or slow the progression of symptoms?



  • What is Duchenne muscular dystrophy? (Back to Top)

  • Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs.[1] In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.[2]  There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.[3]


  • Last Reviewed: 1/8/2009

  • How might Duchenne muscular dystrophy be treated? (Back to Top)

  • There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.[3] Aggressive management of dilated cardiomyopathy with anti-congestive medications is often necessary, including cardiac transplantation in severe cases. Assistive devices for respiratory complications may be needed, especially at night. The medication prednisone - a steroid - is given to improve the strength and function of individuals with DMD. Prednisone has been shown to prolong 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. A synthetic form of prednisilone, called Deflazacort, is used in Europe and believed to have fewer side effects than prednisone. A medication called cyclosporine has been used and has improved clinical function in children, but its use is controversial due to cyclosporine-induced myopathy. Oxandrolone, a medication used in a research study, has similar effects to prednisone with fewer side effects. There are several other therapies are also under investigation, including coenzyme Q10, glutamine (an amino acid essential for muscle strength), pentoxifylline, and PTC124 ( a drug which allows the protein-making system of the cell to continue manufacturing the full-length protein, even when a mutation is present) [1]

    Activity is encouraged for individuals with Duchenne muscular dystrophy. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care.[3]

  • Last Reviewed: 1/8/2009

  • Where can I learn more about current research into treatments for Duchenne muscular dystrophy? (Back to Top)

  • 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 Reviewed: 1/8/2009


References  (Back)
  1. Learning About Duchenne Muscular Dystrophy. National Human Genome Research Institute (NHGRI). November 6, 2008 Available at: http://www.genome.gov/19518854. Accessed January 8, 2009.
  2. Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). December 2007 Available at: http://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy. Accessed January 8, 2009.
  3. Kirmse B. Duchenne muscular dystrophy. MedlinePlus. August 11, 2006 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm. Accessed January 8, 2009.


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