Paramyotonia Congenita

In Paramyotonia Congenita, it is the sodium channels in the muscle that are not working as well as they should.

  • The reason they don’t work so well is because of a ‘mistake’  in the gene that makes the sodium channel
  • This gene is called SCN4A

What is paradoxical myotonia?

  • In paramyotonia congenita, the myotonia can get worse with repeated action or movement of the muscle. This is called paradoxical myotonia.

How is paramyotonia congenita different from myotonia congenita?

  • People with paramyotonia often report more myotonia in their face rather than in their legs
  • People with paramyotonia tend to get worse with exercise and exertion

What makes paramyotonia worse?

  • Cold weather or temperature in particular makes symptoms worsen
  • Exercise
  • After a long period of rest
  • Stress