congenital myasthenic syndrome
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2022 ◽  
Vol 96 ◽  
pp. 85-89
Author(s):  
Charungthai Dejthevaporn ◽  
Suppachok Wetchaphanphesat ◽  
Teeratorn Pulkes ◽  
Sasivimol Rattanasiri ◽  
Andrew G. Engel ◽  
...  

Author(s):  
Anna Winczewska-Wiktor ◽  
Adam Sebastian Hirschfeld ◽  
Magdalena Badura-Stronka ◽  
Irena Wojsyk-Banaszak ◽  
Paulina Sobkowiak ◽  
...  

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene.


Author(s):  
Paulo José Lorenzoni ◽  
Renata Dal-Pra Ducci ◽  
Raquel Cristina Arndt ◽  
Nyvia Milicio Coblinski Hrysay ◽  
Otto Jesus Hernandez Fustes ◽  
...  

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.


Author(s):  
Eduardo P. Estephan ◽  
Antonio A. Zambon ◽  
Rachel Thompson ◽  
Kiran Polavarapu ◽  
Danny Jomaa ◽  
...  

Author(s):  
Christoffer Ehrstedt ◽  
Wei-Wei Liu ◽  
Carina Frykholm ◽  
David Beeson ◽  
Anna Rostedt Punga

2021 ◽  
Vol 429 ◽  
pp. 118262
Author(s):  
Paolo Emilio Alboini ◽  
Lucia Florio ◽  
Maurizio Leone

2021 ◽  
Vol 429 ◽  
pp. 118280
Author(s):  
Mohamed Islam Kediha ◽  
Meriem Tazir ◽  
Damien Sternberg ◽  
Bruno Eymard ◽  
Lamia Ali Pacha

2021 ◽  
Vol 48 (10) ◽  
pp. 6999-7006
Author(s):  
Rochdi Khaoula ◽  
Mathieu Cerino ◽  
Nathalie Da Silva ◽  
Valerie Delague ◽  
Halima Nahili ◽  
...  

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