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Pri prijetí mel dysartrickou, tichou a srozumitelnou rec, izokorii, bez poruchy okulomotoriky, snízené korneální reflexy, plossí mimiku vlevo, krátce nadzvedl hlavu nad podlozku, jen velmi omezene zvedl patrové oblouky bilaterálne, nesvedl elevaci horních koncetin (HK) nad podlozku, stisk jen naznacen, u DK pouze náznak pohybu v kycelních kloubech, RR C5-8, L2-S2 vyhaslé, s difuzní poruchou cití HK i DK. První zemrel po 6 tydnech a druhy po 3 tydnech po období umelé ventilace s vysazením sedace, kdy kontakt byl mozny pomocí funkcní MR. Byla provedena MR hlavy s následujícími sekvencemi: v axiální rovine T2 vázené obrazy, fluid attenuated inversion recovery (FLAIR), suscetibilne vázené obrazy (susceptibility weighted images; SWI) a difuzí vázené obrazy (diffusion weighted images; DWI); v sagitální rovine T1 vázené obrazy; v koronární rovine FLAIR obrazy. [Extracted from the article]

The article informs about heart problems in individuals with Emery- -Dreifuss muscular dystrophy are caused by a number of related complications. Topics include Cardiac complications manifest as arrhythmias, atrio-ventricular conduction blockages, congestive heart failure; and Cardiac involvement develops independently of changes in the neuromuscular system as patients should be examined in detail using electrocardiography (ECG), and invasive electrophysiological examination.

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