TürkiyeResearch and clinical trials
Congenital myasthenic syndrome in 133 children from 28 centers in Türkiye: diagnosis delayed by 2 years on average
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Türkiye, 133 children from 28 centers were studied. In all of them, the diagnosis had been confirmed by genetic testing. Symptoms began at a median age of 6 months. Diagnosis, however, was delayed by a median of 24 months. The most common finding was involvement of the eyelids and eye muscles. Consanguineous marriage (parents related by blood) was present in 82% of families. The most common gene was COLQ, followed by CHRNE and CHAT.
What does it mean for patients and families?
In this disease, the choice of treatment depends on which gene is affected. That is why early genetic diagnosis is important. Treatment decisions are made with your doctor.
Source
Scientific paper: Congenital myasthenic syndromes in Türkiye: genetic and clinical spectrum revisited in a nationwide pediatric cohort. Neuromuscular Disorders, 2026. DOI: 10.1016/j.nmd.2026.107399 · PubMed 42727323
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Congenital myasthenic syndromes (CMS)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.