Neurol. praxi. 2007;8(4):247-249

Central core disease

MUDr. Ivan Buran CSc1, MUDr. Tatiana MIčudová1, doc. MUDr. František Ondriaš CSc2, doc. MUDr. Michal Ondrejčák CSc., MPH3
1 Neurologické oddelenie ŽNsP Bratislava
2 Patologické oddelenie NsP Ružinov, Bratislava
3 Oddelenie klinickej genetiky ŽNaP, Bratislava

Uvádza sa kazuistika pacientky s niekoľko rokov progredujúcou svalovou slabosťou, hypotóniou svalstva dolných končatín, so zachovalými reflexami s myopatickým typom chôdze. V úvode bol prechodne dominujúci vertebrogénny algický syndróm. Bioptické vyšetrenie zistilo zmeny typické pre central core disease. Kazuistika je zaujímavá manifestáciou ochorenia v dospelosti a sporadickým výskytom.

Keywords: progredujúca slabosť, hypotónia svalov, zachovalé reflexy, typický bioptický nález

Published: November 1, 2007  Show citation

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Buran I, MIčudová T, Ondriaš F, Ondrejčák M. Central core disease. Neurol. praxi. 2007;8(4):247-249.
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