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