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Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness.
ORPHA:684Classification level: Disorder
Prevalence is unknown.
The syndrome is nonprogressive.
It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
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)
- Article for general public
- Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
- Deutsch (2012) - AWMF
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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