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Myotonia congenita autosomal dominant


Other Names for this Disease

  • Autosomal dominant myotonia congenita
  • THD
  • Thomsen disease
  • Thomsen's disease
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Overview

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: 7/29/2010

References

  1. Myotonia Congenita. National Institute of Neurological Disorders and Stroke (NINDS). February 14, 2007; http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm. Accessed 7/29/2010.
  2. Myotonia Congenita. Genetics Home Reference (GHR). April 2007; http://ghr.nlm.nih.gov/condition=myotoniacongenita. Accessed 7/29/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Myotonia congenita autosomal dominant. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonia congenita autosomal dominant. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal dominant myotonia congenita
  • THD
  • Thomsen disease
  • Thomsen'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.