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Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
- Source :
-
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2022 Jan; Vol. 80 (1), pp. 69-74. - Publication Year :
- 2022
-
Abstract
- Background: Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG).<br />Objective: The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort.<br />Methods: The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool.<br />Results: We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe).<br />Conclusions: This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.
Details
- Language :
- English
- ISSN :
- 1678-4227
- Volume :
- 80
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Arquivos de neuro-psiquiatria
- Publication Type :
- Academic Journal
- Accession number :
- 34932651
- Full Text :
- https://doi.org/10.1590/0004-282X-ANP-2020-0575