Myotonic discharges discriminate chloride from sodium muscle channelopathies

Gea Drost*, Bas C. Stunnenberg, Jeroen Trip, George Borm, Kevin C. McGill, Ieke H. B. Ginjaar, Arendina W. van der Kooi, Machiel J. Zwarts, Baziel G. M. van Engelen, Catharina G. Faber, Dick F. Stegeman, Zoia Lateva

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Web of Science)

Abstract

Non-dystrophic myotonic syndromes represent a heterogeneous group of clinically quite similar diseases sharing the feature of myotonia. These syndromes can be separated into chloride and sodium channelopathies, with gene-defects in chloride or sodium channel proteins of the sarcolemmal membrane. Myotonia has its basis in an electrical instability of the sarcolemmal membrane. In the present study we examine the discriminative power of the resulting myotonic discharges for these disorders. Needle electromyography was performed by an electromyographer blinded for genetic diagnosis in 66 non-dystrophic myotonia patients (32 chloride and 34 sodium channelopathy). Five muscles in each patient were examined. Individual trains of myotonic discharges were extracted and analyzed with respect to firing characteristics. Myotonic discharge characteristics in the rectus femoris muscle almost perfectly discriminated chloride from sodium channelopathy patients. The first interdischarge interval as a single variable was longer than 30 ms in all but one of the chloride channelopathy patients and shorter than 30 ms in all of the sodium channelopathy patients. This resulted in a detection rate of over 95%. Myotonic discharges of a single muscle can be used to better guide toward a molecular diagnosis in non-dystrophic myotonic syndromes.
Original languageEnglish
Pages (from-to)73-80
JournalNeuromuscular Disorders
Volume25
Issue number1
DOIs
Publication statusPublished - Jan 2015

Keywords

  • Myotonic discharges
  • Non-dystrophic myotonic syndromes
  • Needle electromyography
  • Chloride channelopathies
  • Sodium channelopathies
  • Diagnosis

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