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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 2


Other Names for this Disease
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic myopathy
More Names
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Tests & Diagnosis


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How is myotonic dystrophy type 2 diagnosed?

Myotonic dystrophy is diagnosed by doing a physical exam. A physical exam can identify the typical pattern of muscle wasting and weakness and the presence of myotonia. A person with myotonic dystrophy may have a characteristic facial appearance of wasting and weakness of the jaw and neck muscles. Men may have frontal balding.[1]

There are several laboratory tests that can be used to clarify the clinical diagnosis of myotonic dystrophy. One test, called electromyography (EMG), involves inserting a small needle into the muscle. The electrical activity of the muscle is studied and usually shows characteristic patterns of muscle electrical discharge.[1] The definitive test for myotonic dystrophy type 2 is a genetic test. For this test, certain cells within the blood are analyzed to identify a change (mutation) in the CNBP gene. [1]

The University of Washington provides more information on genetic testing for myotonic dystrophy type 2 in their publication titled, "Myotonic Dystrophy: Making an Informed Choice About Genetic Testing."
Last updated: 3/2/2010

References
  1. Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 23, 2011; http://www.genome.gov/25521207. Accessed 4/8/2012.


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.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.