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Diseases

Genetic and Rare Diseases Information Center (GARD)

Duchenne muscular dystrophy


Other Names for this Disease
  • Muscular dystrophy, Duchenne
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Related Diseases
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Overview

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 updated: 4/25/2015

References

  1. Learning About Duchenne Muscular Dystrophy. National Human Genome Research Institute (NHGRI). April 18, 2013; http://www.genome.gov/19518854. Accessed 4/25/2015.
  2. Duchenne and Becker muscular dystrophy. Genetics Home Reference (GHR). February 2012; http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy. Accessed 4/25/2015.
  3. Haldeman-Englert C. Duchenne muscular dystrophy. MedlinePlus. February 3, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm. Accessed 4/25/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Duchenne muscular dystrophy. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Duchenne muscular dystrophy. Click on the link to view a sample search on this topic.

Resources for Kids

  • BrainPOP presents the topic of Duchenne muscular dystrophy in a short, animated movie that is available on CheckOrphan's Web site.  BrainPOP produced this video in partnership with Parent Project Muscular Dystrophy, this four minute video strives to provide kids of all ages with a clear understanding of Duchenne. 
Other Names for this Disease
  • Muscular dystrophy, Duchenne
  • DMD
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.