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Potassium aggravated myotonia


Other Names for this Disease

  • Myotonia congenita, acetazolamide-responsive
  • Myotonia congenita, atypical
  • Myotonia fluctuans
  • Myotonia permanens
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Overview

Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement.  The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.[1]  Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium.  Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.[1][2]  Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.[2]  Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide).[1]
Last updated: 4/17/2012

References

  1. Potassium-aggravated myotonia. Orphanet. October 2010; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=610&Disease_Disease_Search_diseaseGroup=612&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group of diseases=Potassium-aggravated-myotonia&title=Potassium-aggravated-myotonia&search=Disease_Search_Simple. Accessed 4/17/2012.
  2. Potassium-aggravated myotonia. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia. Accessed 4/17/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Potassium aggravated myotonia. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Potassium aggravated myotonia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Myotonia congenita, acetazolamide-responsive
  • Myotonia congenita, atypical
  • Myotonia fluctuans
  • Myotonia permanens
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.