Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family.
The nosological distinction between paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HPP) continues to generate debate. Recently, electrophysiological signs thought to be specific for each entity have been described and have been used to bolster the argument that the two disorders are distinct. We report a particularly instructive family wherein individual members had clinical features of either PC or HPP and electrophysiological features of both. We suggest that PC and HPP represent part of the spectrum of a single genetic disorder. Evoked response testing, with exercise and cold provocation, may be useful in determining the physiologic pattern that predominates in any one individual.
de Silva
S M
SM
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Kuncl
R W
RW
Griffin
J W
JW
Cornblath
D R
DR
Chavoustie
S
S
D000328:Adult; D003080:Cold Temperature; D004576:Electromyography; D015444:Exercise; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009224:Myotonia Congenita / Q000175:diagnosis / Q000503:physiopathology*; D010245:Paralyses, Familial Periodic / Q000175:diagnosis / Q000503:physiopathology*; D010375:Pedigree; D011247:Pregnancy