SCN4A Mutation

Well, I've had other test results come back. The only thing abnormal is a mutation in my SCN4A gene. The Athena test results say that the clinical significance of this result is unknown, because the variation is of a type similar to both disease-causing variations and benign changes seen in the general population.

However, many other mutations in the SCN4A gene have been linked to muscle disease.

I've added a more thorough write-up about the test result and SCN4A here, on the Cramp Fasciculation blog.