Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
ATP2A1
Brody myopathy
electric functional analyses
electroneuromyography
incremental response
repetitive nerve stimulation
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
12
07
2019
revised:
10
01
2020
accepted:
12
01
2020
pubmed:
17
1
2020
medline:
15
4
2020
entrez:
17
1
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Sarcoplasmic Reticulum Calcium-Transporting ATPases
EC 3.6.3.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
491-495Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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