Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Paramyotonia congenita of Von Eulenburg

ORPHA684
Synonym(s) Paramyotonia congenita
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Adolescent
Adult
Childhood
ICD-10
  • G71.1
OMIM
UMLS
  • C1868617
MeSH
  • C538616
MedDRA -

Summary

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).

Expert reviewer(s)

  • Pr Bertrand FONTAINE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical practice guidelines
  • DE (2012)
Article for general public
  • EN (2011)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.