objective the guillain-barre syndrome (gbs) is characterized by the acute onset of rapidlyprogressive, symmetric muscle  weakness with absent or decreased deep tendon reflexes. gbs is the most common cause of acute flaccid paralysis in childhood, with an incidence of 0.6-4 per 100 000 population per year. the clinical features are distinct and obtaining patient's history and conducting an exami...

Paraspinal compartment syndrome is a rare cause of lower back pain that remains under-recognized and under-treated and which can result in prolonged and debilitating pain. We present the case of a young female with paramyotonia congenita due to sodium chanelopathy, who developed acute paraspinal compartment syndrome after ingestion of an ephedrine containing proprietary weight loss product. We ...

In two subjects with paramyotonia congenita the isometric torque generated by the abductor digiti minimi and the surface EMG recorded over ADM decreased during prolonged or repetitive contractions, whether these were voluntarily or electrically induced. Isometric twitch times did not alter significantly during this muscle fatigue. Cooling greatly accelerated the fatiguing process. It is suggest...

Effects of the antiarrhythmic and antimyotonic drug mexiletine were studied on two sodium channel mutants causing paramyotonia congenita (R1448H) and an overlap paramyotonic and hyperkalemic paralytic syndrome (M1360V). Channels were expressed in human embryonic kidney cells and studied electrophysiologically, using the whole-cell patch-clamp technique. Compared to the wild-type, channel, both ...

We studied the consequences of the Nav1.4 mutation R1448H that is situated in the fourth voltage sensor of the channel and causes paramyotonia, a cold-induced myotonia followed by weakness. Previous work showed that the mutation uncouples inactivation from activation. We measured whole-cell Na(+) currents at 10, 15, 20, and 25°C using HEK293 cells stably transfected with wildtype (WT) and R1448...