SCN4A -associated disorders include hyperkalemic periodic paralysis (hyperPP, OMIM: 170500), hypokalemic periodic paralysis Type 2 (OMIM: 613345), paramyotonia
congenita (PMC, OMIM: 168300), sodium channel myotonias (SCM, OMIM: 608390), and congenital myasthenic syndrome (OMIM: 614198).
OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia
congenita, central core disease, Pompe disease, nemaline, myotubular and GNE myopathies, and periodic paralysis.
congenita (PC) is a muscular disorder characterized by myotonia, or muscular stiffness, at cold temperatures.
congenita with an SCN4A mutation affecting cardiac repolarization.
Some researchers regard paramyotonia
congenita as a form of periodic paralysis.
These disorders (myotonia congenita, paramyotonia
congenita, periodic paralysis and central core disease) are sometimes called channelopathies.
Myotonia congenita Paramyotonia
congenita Central core disease Nemaline myopathy Myotubular myopathy Periodic paralysis
There are eight inheritable myopathies: central core disease, myotonia congenita, paramyotonia
congenita, myotubular myopathy, nemaline myopathy, hypokalemic periodic paralysis, hyperkalemic periodic paralysis and normokalemic periodic paralysis.