Congenital paramuscular rigidity

Congenital paramyotonia is an autosomal dominant inheritance, and it is a one-allele disease with periodic hyperparalysis of high potassium type. It is caused by a mutation in the SCN4A gene of the sodium channel of chromosome 17. The gene mutations are mainly located in the S3 ～ S4 fragments in the III region and the junction between the III and IV regions. It is described by Eulen burg (1886) and Rich (1894), so it is also known as Eulen berg disease.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.