Other Names for this Disease
- Dystrophia myotonica
Your QuestionMy 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?
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Questions on this page
There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms seen in patients with myotonic dystrophy type 2 tends to be milder than those observed in 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 mutations in the CNBP gene are responsible for myotonic dystrophy type 2.
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’s 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.
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.
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.
- Myotonic dystrohpy. Genetics Home Reference (GHR). November 2010; http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed 7/15/2011.
- Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 2011; http://www.genome.gov/25521207#al-4. Accessed 7/15/2011.
- Facts About Myotonic Dystrophy. Muscular Dystrophy Association (MDA). 2009; http://www.mda.org/publications/fa-mmd-qa.html. Accessed 7/15/2011.
- Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. GeneReviews. April 2007; http://www.ncbi.nlm.nih.gov/books/NBK1466/#myotonic-d2.Management. Accessed 7/15/2011.
- Bird TD. Myotonic Dystrophy Type 1. GeneReviews. February 2011; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonic-d. Accessed 7/15/2011.