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Genetic and Rare Diseases Information Center (GARD)

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Duchenne muscular dystrophy

Other Names for this Disease
  • DMD
  • Muscular dystrophy, Duchenne
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
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Your Question

I am the parent of a 10-year-old boy with Duchenne muscular dystrophy (DMD). We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms. We can't locate any other person with that specific mutation. We have used the Leiden Data Base and Duchenne Connect, and we have asked an expert at the University of Utah. We are trying to determine the potential course this disease will take. Can you offer any suggestions as to how we can find out if another person has the same mutation?

Our Answer

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

How can I find out if my son's mutation in the DMD gene has been reported another individuals?

The Human Gene Mutation Database (HGMD) is a resource where you may be able to find out if your son's mutation has been previously reported. Free registration is available to users from academic institutions and non-profit organizations. HGMD lists mutations in the DMD gene by type, and your son's mutation may be included in the small deletion category. There is also a professional version of HGMD that includes newly described mutations, but it requires a subscription. If you cannot access the public version of this database, you may want to try to contacting an advocacy organization for Duchenne muscular dystrophy. These organizations should be able to gain access to the database if they have not already registered. Most organizations also have medical or scientific advisory boards consisting of experts in the field. These experts may have access to HGMD professional or additional information on DMD mutations. You can find advocacy organizations for DMD listed on our resource page.

You can also find journal articles that report DMD mutations through a service called PubMed, a searchable database of medical literature. Some articles are available for free, while most other articles have a summary (abstract) available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also purchase most articles online using the link publisher's Web site. Using "Duchenne muscular dystrophy mutations" as your search term should locate articles. To narrow your search, enter more specific information on your son's mutation or click on the “Limits” tab under the search boxand select your criteria.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated: 4/6/2009