Search for a rare disease
Other search option(s)
Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
ORPHA:684Classification level: Disorder
Article for general public
- Clinical practice guidelines
- Deutsch (2012)