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Genetic and Rare Diseases Information Center (GARD)

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Paramyotonia congenita


Other Names for this Disease

  • Eulenburg disease
  • Myotonia congenita intermittens
  • Paralysis periodica paramyotonica
  • Paramyotonia congenita of Von Eulenburg
  • PMC
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Overview

Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.  Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.[1]
Last updated: 5/18/2012

References

  1. Paramyotonia congenita. Genetics Home Reference. April 2007 ; http://ghr.nlm.nih.gov/condition/paramyotonia-congenita. Accessed 11/17/2011.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Paramyotonia congenita. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Eulenburg disease
  • Myotonia congenita intermittens
  • Paralysis periodica paramyotonica
  • Paramyotonia congenita of Von Eulenburg
  • PMC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.