[SMC] Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis

Répondre
Avatar du membre

Auteur du sujet
RSS-Bot
Ami(e) de Diamant
Ami(e) de Diamant
Messages : 2979
Enregistré le : 31 mai 2020 09:57
3
Zodiaque :
Âge : 20
Contact :
    Windows 10 Firefox

[SMC] Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis

Message par RSS-Bot »


Arq Neuropsiquiatr. 2021 Dec 17:S0004-282X2021005028203. doi: 10.1590/0004-282X-ANP-2020-0575. Online ahead of print.

ABSTRACT

BACKGROUND: Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG).

OBJECTIVE: The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort.

METHODS: The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool.

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).

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.

PMID:34932651 | DOI:10.1590/0004-282X-ANP-2020-0575


Source: https://pubmed.ncbi.nlm.nih.gov/3493265 ... 0&v=2.17.5
Si vous appréciez notre travail, merci de nous soutenir un petit don en cliquant ICI

Pour obtenir la traduction en français,
cliquez sur le bouton situé dans la barre des menus en haut de cette page 

Image


Pour les donateurs, si cet article vous intéresse, nous pouvons faire l’acquisition d'un tiré-à-part.
Merci d'en faire la demande sur association.amis-modo@myasthenie.com


Bonne lecture...
Répondre

Retourner vers « Syndrome Myasthénique Congénital -SMC »