Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Details

Serval ID
serval:BIB_70EE4896AFE5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Journal
Muscle & nerve
Author(s)
Masingue M., Arzel M., Sternberg D., Stojkovic T., Behin A., Bassez G., Vicart S., Péréon Y., Magot A., Kuntzer T., Eymard B., Fournier E.
ISSN
1097-4598 (Electronic)
ISSN-L
0148-639X
Publication state
Published
Issued date
04/2020
Peer-reviewed
Oui
Volume
61
Number
4
Pages
491-495
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. Diagnosis relies on needle electromyography showing electrical silence, muscle biopsy with decreased sarcoplasmic reticulum calcium adenosine triphosphatase activity, and genetic analysis. Electrodiagnostic functional analyses are useful in the diagnosis of channelopathies, and thus may be impaired in BM.
We performed exercise tests and repetitive nerve stimulation (RNS; 10 supramaximal stimuli at 3 Hz) in 10 patients with BM.
All participants showed incremental responses on RNS. Compound muscle action potential amplitude was increased and duration was decreased, especially in the ulnar nerve (+30.2 ± 7.1% and - 30.3 ± 2.8%, respectively; both P < .001).
Easily accessible, this sign, referred to as the Arzel sign, could prove to be a very useful tool in BM diagnosis and in broadening its phenotype.
Keywords
Action Potentials/physiology, Electric Stimulation, Electrodiagnosis/methods, Electromyography, Exercise Test, Female, Humans, Male, Muscle, Skeletal/physiopathology, Mutation, Myotonia Congenita/diagnosis, Myotonia Congenita/genetics, Myotonia Congenita/physiopathology, Sarcoplasmic Reticulum Calcium-Transporting ATPases/genetics, Ulnar Nerve/physiopathology, ATP2A1, Brody myopathy, electric functional analyses, electroneuromyography, incremental response, repetitive nerve stimulation
Pubmed
Web of science
Create date
23/01/2020 15:49
Last modification date
15/07/2020 5:26
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