paramyotonia congenita of Von Eulenburg https://www.malacards.org/card/paramyotonia_congenita 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). Eulenburg disease Von Eulenburg paramyotonia congenita paramyotonia congenita MEDGEN:113142 PMC NCIT:C122790 NANDO:1200501 myotonia congenita intermittens Orphanet:684 GARD:0007325 SCTID:41574007 UMLS:C0221055 MONDO:0008195 paramyotonia congenita of Von Eulenburg DOID:0111538 OMIM:168300 ICD9:359.29 icd11.foundation:1740060527 myotonic syndrome hereditary skeletal muscle disorder SCN4A-related channelopathy