Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations - 12/10/22
Abstract |
Background |
Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counseling depend upon the underlying pathogenic molecular mechanism and subtype of CMS.
Methods |
A retrospective and cross-sectional study was performed with 16 patients with a genetically confirmed diagnosis of CMS to share our experience with clinical symptoms, demographic data, genetic variants, and treatments applied.
Results |
Sixteen patients with a specific CMS genetic diagnosis (three novel mutations) were identified, including CHRNE (n = 7), DOK7 (n = 2), AGRN (n = 2), RAPSN (n = 1), CHRNA1 (n = 1), CHRNB1 (n = 1), CHAT (n = 1), and SCN4A (n = 1). Age at onset of symptoms ranged from the neonatal period to 12 years. Genetic diagnosis was confirmed between the ages of three months and 17 years. A significant delay was determined between the onset of symptoms and genetic diagnosis of the disease.
Conclusions |
This study highlights the importance of genetic testing in CMS. Due to the rarity of CMS, more cases will be recognized and reported as the use of laboratory and genetic testing accelerates. We hope that our experience will grow and contribute further to the literature as clinical follow-up and treatment increase.
Le texte complet de cet article est disponible en PDF.Keywords : Congenital myasthenic syndrome, CHRNE, DOK7, Genetic diagnosis
Plan
| Author Contributions: This work was designed by H.P. H.P., S.Ö., and H.G. were involved in patient care, including the process-segregation procedure and routine clinical follow-up. H.P., S.Ö., A.G., and H.G. did a literature review and wrote the article. S.Ö. and A.G. performed the statistical analysis. M. Demir, M.E., A.O.Ç., and M. Dundar were responsible for genetic testing. H.P., S.Ö., A.G., M. Demir, M.E., A.O.Ç., Y.P., M.C., and H.G. were responsible for patient management. |
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| Conflict of Interest: The authors declare no potential conflict of interest concerning research, authorship, and/or publication of this article. |
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| Funding: The authors received no financial support for the research, authorship, and/or publication of this article. |
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| Ethical Approval: Informed consent was obtained from all the parents or legal guardians of the children included. This study was approved by the Erciyes University Scientific Research Committee (No. 2021/76). |
Vol 136
P. 43-49 - novembre 2022 Retour au numéro
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