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Is there any comorbidity to myotonic dytrophy?

I am working with a 2year old diagnosed with Hirschsprung's Disease. She also looks like she could have myotonic dystrophy. Is there a connection?
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Female
asked Feb 03, 2010 at 04:52AM in Neurology/Brain Disorders
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    answered Jul 23, 2010 at 01:18PM
    I am not aware of any connection in the literature. Since the genetic cause of Hirschprungs is not yet known and myotonic dystrophy (DM) is a genetic disorder which is still being researched, you question may not be answerable given the current state of the research. For an interesting discussion of the issues involved in diagnosis of genetic diseases see: Genomewide Association Studies — Illuminating Biologic Pathways and Genetic Risk Prediction — Are We There Yet?. N Engl J Med 360;17 2009

    However, since bowel obstructions, constipation and other bowel issues have been commonly reported among the symptoms of DM (see for example; Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2, Neuromuscular Disorders 18 (2008) 646–649), it is possible that your patient has DM and was misdiagnosed (initial misdiagnosis of another disease is also a frequent occurrence in DM patients). It is also possible that Hirschsprungs is an unreported comorbidity, or that your patient does not have DM.

    Since there is genetic testing available for both forms of DM that may be an avenue you wish to explore. There is also literature on conditions you may wish to eliminate prior to testing for DM and that article is The Nondystrophic Myotonias, C Heatwole and R Moxley, Neurotherapeutics:The American Society for Experimental NeuroTherapeutics, Inc. Vol. 4, 238-251, April 2007.

    For further assistance on DM issues you may wish to review the information on the Myotonic Dystrophy Foundation website:

    http://www.myotonic.org

    Hope this response is of some help to you;
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