The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum…

Cohort studyEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· May 2026

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

Sanem Yilmaz, Esra Serdaroglu, Erdem Simsek … Hasan Tekgul

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Molecular Genetic PathologyCohort studyTreatmentQ2IF 2.3

Genetic diagnosis was linked to treatment changes in most childhood-onset dystonia cases

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

Sanem Yilmaz … Hasan Tekgul

European journal of paediatric neurology · May 2026 · Q2 in General Medicine

Background

Childhood-onset dystonia (childhood-onset dystonia) encompasses a clinically and etiologically heterogeneous group of disorders, often with overlapping features.

Purpose

To delineate the molecular genetic etiology, phenotypic characteristics, and treatment strategies in a multicenter cohort with gene-related CODs.

Methods

The study cohort comprised 81 patients with gene-related childhood-onset dystonia from 19 tertiary pediatric neurology centers in Turkiye.

n = 81 patients

60.5%

Results

60.5%

targeted diagnosis changed treatment or added DBS in most patients

n = 81 patients

More results

A diverse genetic landscape was identified in the cohort of 81 patients, revealing 62 distinct (pathogenic/likely pathogenic) variants across 26 genes.

The genetic diagnoses were established through whole-exome sequencing (49.4%), single-gene testing (25.9%), and targeted gene panels (23.5%).

More results

The common etiologies of gene-related childhood-onset dystonia were KMT2B (16%), GCH1 (11.1%), SLC2A1 (11.1%), GNAO1 (8.6%), TOR1A (8.6%), GNAL (6.2%).

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Conclusion

This nationwide study highlights the phenotypic and genetic diversity of gene-related childhood-onset dystonia with certain therapeutic implications based on the molecular etiology-specific diagnosis.

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

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