Other Names for this Disease
- Paramyotonia congenita of Von Eulenburg
- Paralysis periodica paramyotonica
- Eulenburg disease
- Myotonia congenita intermittens
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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.Paramyotonia congenita is an inherited condition that affects muscles used for movement (
Last updated: 5/18/2012
- Paramyotonia congenita. Genetics Home Reference. April 2007 ; http://ghr.nlm.nih.gov/condition/paramyotonia-congenita. Accessed 11/17/2011.
- Genetics Home Reference (GHR) contains information on Paramyotonia congenita. This website is maintained by the National Library of Medicine.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Periodic Paralysis News Desk Web site has information about paramyotonia congenita. Click the link to view.
- The Muscular Dystrophy Association's Web site provides more information about paramyotonia congenita. Click the link to read more.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.