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paramyotonia congenita of Von Eulenburg

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description 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).
Uniprot Description An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.
Mondo Term and Equivalent IDs
MONDO:0008195:  paramyotonia congenita of Von Eulenburg
DOID:0111538: 
GARD:0007325: 
NCIT:C122790: 
Orphanet:684: 
SCTID:41574007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)