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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
More Names
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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


  1. Paramyotonia congenita. Genetics Home Reference. April 2007 ; Accessed 11/17/2011.
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  • The Online Mendelian Inheritance in Man (OMIM) is an 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.