The needle EMG findings in myotonia congenita.

Adolescent Adult Child Child, Preschool Diagnosis, Differential Electromyography / methods Evoked Potentials, Motor Female Genes, Dominant Genes, Recessive Humans Male Middle Aged Muscle, Skeletal / physiopathology Mutation Myotonia Congenita / diagnosis
Becker MC EMG MD MUAP Myotonia congenita Thomsen MC

Journal

Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology
ISSN: 1873-5711
Titre abrégé: J Electromyogr Kinesiol
Pays: England
ID NLM: 9109125

Informations de publication

Date de publication:
Dec 2019
Historique:
received: 08 08 2019
revised: 25 09 2019
accepted: 01 10 2019
pubmed: 15 10 2019
medline: 11 2 2020
entrez: 15 10 2019
Statut: ppublish

Résumé

Myotonia congenita (MC) is caused by pathogenic variants in the CLCN1 gene coding the chloride channel protein. To test the hypothesis that needle EMG could be helpful in distinguishing between the recessive and dominant MC, we performed EMG examination in 36 patients (23 men) aged 4-61 years with genetically proven MC: in 30 patients with autosomal recessive MC (Becker MC) and in 6 with autosomal dominant MC (Thomsen MC). Myotonic discharges were recorded in 95.8% of examined muscles. For the whole MC group we observed a significant positive correlation between parameters of motor unit activity potentials (MUAPs) in vastus lateralis and tibialis anterior muscles and the duration of the disease. Similar correlation for biceps brachii also was found in Becker MC subgroup only. EMG could still be helpful in diagnosis of MC and together with provocative tests might be useful in differentiation between recessive and autosomal MC.

Identifiants

DOI: 10.1016/j.jelekin.2019.102362 PMID: 31610484
pubmed: 31610484
pii: S1050-6411(19)30326-8
doi: 10.1016/j.jelekin.2019.102362
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

102362

Informations de copyright

Copyright © 2019 Elsevier Ltd. All rights reserved.

Auteurs

Monika Nojszewska (M)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Anna Lusakowska (A)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Malgorzata Gawel (M)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Janusz Sierdzinski (J)

Department of Medical Informatics and Telemedicine, Medical University of Warsaw, Poland. Electronic address: jsierdzinski@wum.edu.pl.

Anna Sulek (A)

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.

Wioletta Krysa (W)

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.

Ewelina Elert-Dobkowska (E)

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.

Andrzej Seroka (A)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Anna M Kaminska (AM)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Anna Kostera-Pruszczyk (A)

Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Myographie › Électromyographie › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Excitabilité corticale › Potentiels évoqués › Potentiels évoqués moteurs › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes dominants › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The needle EMG findings in myotonia congenita.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Myotonie congénitale › The needle EMG findings in myotonia congenita.