Document Detail

Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.
MedLine Citation:
PMID:  22806368     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac arrhythmias and developmental abnormalities but is often difficult to diagnose clinically. This study was undertaken to determine whether sarcolemmal dysfunction could be identified with muscle velocity recovery cycles (MVRCs).
METHODS: Eleven genetically confirmed ATS patients and 20 normal controls were studied. MVRCs were recorded with 1, 2, and 5 conditioning stimuli and with single conditioning stimuli during intermittent repetitive stimulation at 20 Hz, in addition to the long exercise test.
RESULTS: ATS patients had longer relative refractory periods (P < 0.0001) and less early supernormality, consistent with membrane depolarization. Patients had reduced enhancement of late supernormality with 5 conditioning stimuli (P < 0.0001), and less latency reduction during repetitive stimulation (P < 0.001). Patients were separated completely from controls by combining MVRC and repetitive stimulation.
CONCLUSIONS: MVRCs combined with repetitive stimulation differentiated ATS patients from controls more effectively than the conventional long-exercise test.
S Veronica Tan; Werner J Z'graggen; Delphine Boërio; Dipa L Raja Rayan; Robin Howard; Michael G Hanna; Hugh Bostock
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  46     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-18     Completed Date:  2012-10-24     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  193-203     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
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MeSH Terms
Andersen Syndrome / diagnosis*,  genetics,  physiopathology
Channelopathies / diagnosis*,  genetics,  physiopathology
Electric Stimulation
Middle Aged
Muscle, Skeletal / physiopathology*
Potassium Channels, Inwardly Rectifying / genetics*
Sarcolemma / physiology*
Grant Support
5 U54 NS059065-05S2/NS/NINDS NIH HHS; G0601943//Medical Research Council; G1000347//Medical Research Council; R13 NS057995/NS/NINDS NIH HHS; [5U54 RR019498-05/RR/NCRR NIH HHS; //Department of Health
Reg. No./Substance:
0/Kir2.1 channel; 0/Potassium Channels, Inwardly Rectifying

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