Genetics:
SCN4A 17q23
Clinical features:
Myotonia (inability to relax)
No improvement with exercise
Precipitated by cold exposure.
Flaccid paralysis may occur
Related articles:
- Myopathy,
- Myotonic dystrophy DM1, Proximal myotonic myopathy (Myotonic dystrophy DM2), Myotonia Congenita (Thomsen’s disease)