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Diseases

Genetic and Rare Diseases Information Center (GARD)

Myotonia congenita autosomal recessive


Other Names for this Disease
  • Becker disease
  • Myotonia generalized
  • Generalized myotonia
  • Becker's disease
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

How can I learn about research involving myotonia congenita? Is gene therapy available for myotonia congenita?

Our Answer

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

What is myotonia congenita?

Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement.  The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder:  Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form.[1] Both conditions are caused by mutations in the CLCN1 gene.  However, the conditions have different modes of inheritance.  The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.[2]
Last updated: 12/26/2015

How can I learn about research involving myotonia congenita?

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. This resource lists trials that are studying or have studied myotonia congenita autosomal dominant. 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). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States and would like to be contacted via telephone, you will need to contact the PRPL Office and provide your telephone number i full, including area code and international dialing prefix.  

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

You can find information about participating in a clinical trial, as well as learn about resources for travel and lodging assistance, through the Get Involved in Research section of our Web site.

Research in the area of neurologic channelopathies in general may also prove of benefit to myotonia congenita. The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) to facilitate collaboration among experts in many different types of rare diseases.  The goal of the network is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment.  The RDCRN consists of 22 research consortia and a Data and Technology Coordinating Center (DTCC). One of these consortia is the Consortium for Clinical Investigations of Neurological Channelopathies (CINCH). Click here to learn more about this consortium. 

In addition, the Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
http://projectreporter.nih.gov/reporter.cfm

Last updated: 12/26/2015

Is gene therapy available for myotonia congenita?

Gene therapy is available only in a research setting at this time. The U.S. Food and Drug Administration (FDA) has not yet approved any gene therapy products for sale in the United States. While there are many trials to test gene therapy in cancers, HIV/AIDS, and other genetic disorders, we are not aware of a gene therapy trial involving myotonia congenita at this time.

You can search for new trials by visiting ClinicalTrials.gov, a service of the National Institutes of Health. You may wish to refer to a list of gene therapy trials that are accepting (or will accept) participants. If you are interested in participating in a clinical trial, talk with your doctor or a genetics professional about how to participate.  
Last updated: 12/26/2015

References
Other Names for this Disease
  • Becker disease
  • Myotonia generalized
  • Generalized myotonia
  • Becker's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.