Researchers from Türkey presented the genetic, serological, and clinical traits of patients with congenital myasthenic syndrome and juvenile myasthenia gravis (MG). They also reported on the long-term monitoring and management of these patients.

“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,” they wrote in an article that they published in the journal Acta Neurologica Belgica.

Read more about the types of MG

“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,” they added.

The team analyzed 22 children with MG. Of these, 12 had congenital myasthenic syndrome and 10 had juvenile MG.

The most common type of disease involved defects in the acetylcholine receptor affecting 6 of the 12 patients with congenital myasthenic syndrome. The second most common were basal-lamina-related defects affecting 5 of the 12 children. One of the 12 patients had a mutation in the GFPT1 gene. 

A total of 6 patients had ocular MG in whom disease symptoms were milder, while in 4 patients who had generalized MG, the clinical progression of the disease was more severe, especially in female patients who were in the postpubertal phase. This meant that they needed a more aggressive treatment approach, the authors noted.

Treatment centered around salbutamol, cholinesterase inhibitors, ephedrine, and 3,4‐diaminopyridine. However, the researchers warned that cholinesterase inhibitors could worsen certain subtypes of patients, such as those with a mutation in the ColQ gene, and even be fatal.

In cases of juvenile MG, the researchers said that anticholinesterase therapy is usually effective. And in case of moderate to severe generalized MG “steroid therapy can be started together with anticholinesterase therapy,” the researchers reported.

“Thymectomy should be considered in treatment-resistant antiAChR Ab positive patients,” they concluded.


Özsoy Ö, Cinleti T, Günay Ç, et al. Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey. Acta Neurol Belg. Published online September 1, 2023. doi:10.1007/s13760-023-02370-3