Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita of Von Eulenburg is characterized 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).

Also known as: paramyotonia congenita, paramyotonia congenita of Von Eulenburg, Eulenburg disease, PMC, Von Eulenburg paramyotonia congenita, myotonia congenita intermittens, paralysis periodica Paramyotonica, paramyotonia congenita of VON Eulenburg

1 clinical trial for this condition and its sub-types, 1 tagged with Paramyotonia congenita of Von Eulenburg itself.