Electrophysiological properties of congenital myasthenic syndromes

Volume: 47 Number: 1 March 1, 2008
  • Serap M
  • Uludağ B
  • Karasoy H
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Ege Journal of Medicine
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Electrophysiological properties of congenital myasthenic syndromes

Abstract

Introduction: Congenital myasthenic syndromes are a group of hereditary neuromuscular junction diseases, usually present in infancy or childhood period, caused by defects of presynaptic, synaptic or postsynaptic area. In this trial, evaluating electrophysiologic properties of congenital myasthenic syndromes and determining the role of electrophysiologic characteristics for distinction of subgroups of congenital myasthenic syndromes are aimed. Material and Method: Twelve cases which applied to Ege University Department of Neurology, child neurology unit were received to trial. Cases were evaluated according to clinical and electrophysiologic properties. Supramaximal single stimulation, 1-3 Hz repetative stimulation and single fiber electromyography (EMG) methods were carried out. Results: In all of cases, phase number and wideness of motor responses increased after single supramaximal stimulation. 1-3 Hz repetetive stimulation was applied to all of cases, in 8 of cases, decremental responses were established. Single fiber EMG was carried out for 9 of cases, in all of them increased jitter and/or block was determined. In all of cases, abnormalities were determined by repetative stimulation and/or single fiber EMG. Two cases presented motor response instability with single supramaximal stimulation, by evaluation of clinical and electrophysiologic properties of this cases, diagnosis of slow channel disease considered. Conclusion: Easily applied, simple electrophysiologic methods are considered as assistant to diagnosis of subgroups of congenital myasthenic syndromes.

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Primary Language

Turkish

Subjects

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Journal Section

-

Authors

Serap M

Uludağ B

Karasoy H

Publication Date

March 1, 2008

Submission Date

March 1, 2008

Acceptance Date

-

Published in Issue

Year 2008 Volume: 47 Number: 1

IZ

https://izlik.org/JA84DK73DM

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1.Serap M, Uludağ B, Karasoy H. Konjenital miyastenik sendromlarda elektrofizyolojik özellikler. EJM [Internet]. 2008 Mar. 1;47(1):15-9. Available from: https://izlik.org/JA84DK73DM

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