Akademik Veri Yönetim Sistemi
17th International Child Neurology Congress, Antalya, Türkiye, 3 - 07 Ekim 2022, ss.1-2
Objective: Determining the genetic etiology of childhood-onset dystonia is important for making the right treatment decisions, prognostic prediction, and genetic counseling. Methods: A multi-center study was conducted to define the clinical spectrum and genetic landscape in a cohort of patients with genetically confirmed childhood-onset primary dystonia. Results: We identified 64 patients (female:32 male:32) from 17 centers. Mutations were detected in a total of 22 genes, the most common being in KMT2B (20%), SLC2A1 (12,5%), TOR1A (11%), and GNAO1 (9%) (Figure 1). The genetic analyses leading to the diagnosis were whole-exome sequencing (53%), single-gene analysis (25%), gene panels (20%), and microarray (2%). The onset of dystonia varied between the newborn period and 13 years (median:5 years). Dystonia was generalized in 53% (n=34), multifocal in 22% (n=14), focal in 14% (n=9), segmental in 9% (n=6) and hemidystonic in 2% (n=1) of the patients. The majority of patients had limb dystonia (92%), while the trunk was involved in 44% (n=28), the neck in 42% (n=27) and the face in 17% (n=11) of the patients. Accompanying movement disorders were choreathetosis(n=13), ataxia(n=12), tremor(n=10), myoclonus(n=8), parkinsonism(n=5), tics(n=2), and ballismus(n=1). The most frequent comorbidities seen in this cohort were; delayed motor development (58%), intellectual disability (52%), epilepsy (22%), dysmorphic features (22%),and psychiatric diseases (8%). Conclusion: KMT2B, SLC2A1, TOR1A, and GNAO1 were the most common genes found responsible for childhood-onset dystonia in this cohort. The majority of patients had accompanying signs and associated features indicating the need for substantial neurological evaluation in patients presenting with dystonia.