Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
OBJECTIVE
Presenting the case of unusual onset hypokalemic periodic paralysis (HypoPP) where myopathy had developed two years before paralysis occurred.


METHODS
A Polish three-generation family with HypoPP and mutation in CACNA1S (R1239G) has been investigated. Clinical presentation with unusual onset of the disease, biopsy results and genetic research in one family member were described.


CONCLUSIONS
HypoPP is a rare disease it needs to be taken into consideration not only in cases of paroxysmal weakness but also when there is myopathy of unknown origin.
Winczewska-Wiktor
A
A
Chair and Department of Developmental Neurology, Poznań University of Medical Sciences, Poland. awwiktor@amp.edu.pl
Steinborn
B
B
Lehman-Horn
F
F
Biczysko
W
W
Wiktor
M
M
Gurda
B
B
Jurkat-Rott
K
K
D000293:Adolescent; D017668:Age of Onset; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D020513:Paralysis, Hyperkalemic Periodic / Q000235:genetics*; D010375:Pedigree
C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type