Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey

Background Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused b...

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Published in:Acta neurologica Belgica 2023-12, Vol.123 (6), p.2325-2335
Main Authors: Özsoy, Özlem, Cinleti, Tayfun, Günay, Çağatay, Sarıkaya Uzan, Gamze, Giray Bozkaya, Özlem, Çağlayan, Ahmet Okay, Hız Kurul, Semra, Yiş, Uluç
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Medicine/Public Health
Neurology
Neuroradiology
Neurosciences
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Summary:Background Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor. Aims Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management. Methods This study was conducted on children diagnosed with myasthenia gravis, who were under the care of Dokuz Eylul University’s Department of Pediatric Neurology for a period of ten years. Results A total of 22 (12 congenital myasthenic syndrome, 10 juvenile myasthenia gravis) patients were identified. Defects in the acetylcholine receptor (6/12) were the most common type in the congenital myasthenic syndrome group. Basal-lamina-related defects (5/12) were the second most prevalent. One patient had a GFPT1 gene mutation (1/12). Patients with ocular myasthenia gravis ( n  = 6) exhibited milder symptoms. In the generalized myasthenia gravis group ( n  = 4), specifically in postpubertal girls, a more severe clinical progression was observed, leading to the implementation of more aggressive treatment strategies. Conclusion This study highlights that clinical recognition of congenital myasthenic syndrome and knowledge of related genes will aid the rapid diagnosis and treatment of these rare neuromuscular disorders. Findings in the juvenile myasthenia gravis group demonstrate the impact of pubertal development and the need for timely and appropriate active therapy, including thymectomy, to improve prognosis.
ISSN:0300-9009
2240-2993
DOI:10.1007/s13760-023-02370-3