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Cohort studyBMC neurology · 2026

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

Rebecca Hui Min Hoe, Jasmine Shimin Koh, Monica Saini … Zhiyong Chen

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NeurologyCohort study

Adult CMS patients in Southeast Asia face a median diagnostic delay of 17.8 years.

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

Rebecca Hui Min Hoe et al. · BMC neurology · 2026

Background

Congenital myasthenic syndromes (CMS) are rare genetic disorders caused by pathogenic variants in proteins expressed at the neuromuscular junction.

Methods

With seronegative myasthenic syndrome who did not respond to immunotherapy were suspected of having CMS and underwent genetic testing.

n = 639 adult

17.8

Results

years

Patients with congenital myasthenic syndromes waited 17.8 years for a diagnosis.

n = 639 adult

More results

From a single-center neuromuscular disease cohort of 639 adult patients, we identified seven (1.1%) patients with a clinical diagnosis of CMS.

Four (57%) had onset of symptoms in adulthood, of whom two manifested in late adulthood.

More results

Three patients from two families were identified to have COLQ-CMS, one patient with CHRNE-CMS, and one patient with CHRNA1-CMS.

We reclassified two variants, COLQ(NM_005677.4): c.1352G > A p.

“

Conclusion

CMS is rare and challenging to diagnose in the adult neurology setting. We present a Southeast Asian cohort of seven adult patients with CMS and discuss their clinical and genotypic features.

Post

Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.

Adult CMS patients in Southeast Asia face a median diagnostic delay of 17.8 years.

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