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Diseases

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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Tests & Diagnosis

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How is Duchenne muscular dystrophy (DMD) diagnosed?

Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13.

Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.[1]
Last updated: 8/21/2014

References
  1. Darras BT, Miller DT, Urion DK. Dystrophinopathies. GeneReviews®. November 23, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1119/. Accessed 8/20/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.