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Paramyotonia congenita of Von Eulenburg
Disease definition
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.
ORPHA:684
Classification level: DisorderSummary
Epidemiology
Prevalence is unknown.
Clinical description
The syndrome is nonprogressive.
Etiology
It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
Genetic counseling
The disease is transmitted as an autosomal dominant trait
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Nederlands (2007) Português (2007) Italiano (2008)
Detailed information
General public
- Article for general public
- English (2011) - Socialstyrelsen
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Deutsch (2012) - AWMF


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.