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Diseases

Genetic and Rare Diseases Information Center (GARD)

Myotonic dystrophy type 1


Other Names for this Disease
  • Dystrophia myotonica type 1
  • DM1
  • Steinert disease
  • Steinert myotonic dystrophy
  • Steinert's disease
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.

Your Question

My girlfriend's grandmother has Myotonic dystrophy type 1.  Fortunately neither my girlfriend's mother nor father is affected, but this disease is quite common in her mother's family.  I want to know the probability that either my girlfriend or our children could get this disease.

Our Answer

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

How is myotonic dystrophy type 1 inherited?

Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. [1]

As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation

Some individuals diagnosed with Myotonic dystrophy type 1 have an obviously affected parent; others do not. A parent may appear to be unaffected because symptoms may be mild or absent. Genetic testing is available to confirm the presence of the condition. [1]
Last updated: 5/11/2011

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
Other Names for this Disease
  • Dystrophia myotonica type 1
  • DM1
  • Steinert disease
  • Steinert myotonic dystrophy
  • Steinert's disease
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.