Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia

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art_CALDAS_Electrophysiological_study_of_neuromuscular_junction_in_congenital_myasthenic_2020.PDF (865.13 KB)
Citações na Scopus
10
Tipo de produção
article
Data de publicação
2020
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Autores
KOUYOUMDJIAN, Joao Aris
Citação
NEUROMUSCULAR DISORDERS, v.30, n.11, p.897-903, 2020
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital myopathies (CM). Jitter was obtained with a concentric needle electrode during voluntary activation of the Orbicularis Oculi muscle in CMS ( n = 21), CPEO ( n = 20), and CM ( n = 18) patients and in controls ( n = 14). RNS (3 Hz) was performed in six different muscles for all patients ( Abductor Digiti Minimi, Tibialis Anterior, upper Trapezius, Deltoideus, Orbicularis Oculi, and Nasalis). RNS was abnormal in 90.5% of CMS patients and in only one CM patient. Jitter was abnormal in 95.2% of CMS, 20% of CPEO, and 11.1% of CM patients. No patient with CPEO or CM presented a mean jitter higher than 53.6 mu s or more than 30% abnormal individual jitter (> 45 mu s). No patient with CPEO or CM and mild abnormal jitter values presented an abnormal decrement. Jitter and RNS assessment are valuable tools for diagnosing neuromuscular transmission abnormalities in CMS patients. A mean jitter value above 53.6 mu s or the presence of more than 30% abnormal individual jitter (> 45 mu s) strongly suggests CMS compared with CPEO and CM.
Palavras-chave
Congenital myasthenic syndrome, Jitter, Single-fiber electromyography, Concentric needle electrode, Chronic progressive external ophthalmoplegia, Congenital myopathies
URI
https://observatorio.fm.usp.br/handle/OPI/39254
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/45