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Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy


Other Names for this Disease

  • Dystrophia myotonica
  • Myotonia atrophica
  • Myotonia dystrophica
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 sister has been diagnosed with myotonic dystrophy and suffers from severe muscle weakness, heart disorders and cataracts. What treatment is available for this condition? Is there research being conducted?

Our Answer

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

What is myotonic dystrophy?

Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family.[1]

There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.[1]
Last updated: 3/12/2014

What treatment is available for for myotonic dystrophy?

There is currently no cure or specific treatment for myotonic dystrophy.[2][3] Treatment is aimed at managing symptoms and minimizing disability.[3] Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain.[4] Canes, braces, walkers and scooters can help as muscle weakness progresses.[2][3] There are also medications that can lessen the myotonia.[2] Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants.[4][5] Other symptoms of myotonic dystrophy can also be treated.[2] Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function.[2][3] Cataracts can be surgically corrected.[3]
Last updated: 3/12/2014

Are there any treatment research studies enrolling people with myotonic dystrophy?

Yes. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. ClinicalTrials.gov lists trials that are studying or have studied myotonic dystrophy. Click on the link above to view a list of these studies. After you click on a study, review its 'eligibility' criteria to determine its appropriateness. Use the study‚Äôs contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) at 1-800-411-1222 to speak with a specialist, who can help you determine if your sister is eligible for any clinical trials.  

You can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8


In 2000, the National Registry for Myotonic Dystrophy (DM) and Facioscapilohumeral Muscular Dystrophy (FSHD) was developed at the University of Rochester in Rochester, New York with funding from the National Institutes of Health (NIH). It was developed to facilitate research by making anonymous data on Registry members available to investigators, by helping them recruit subjects into their clinical studies, and by providing educational materials to patients and family members. Click on the link above to learn how to join this registry.
Last updated: 7/15/2011

References
Other Names for this Disease
  • Dystrophia myotonica
  • Myotonia atrophica
  • Myotonia dystrophica
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.