Clinical and Genetic Characterization of Pediatric Dopa-Responsive Dystonia in Saudi Arabia: A Tertiary Care Cohort Study

Authors

• Saleh A. Alzaid, Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia
• Muneer M. Almutairi, Department of Pediatrics, Pediatric Neurology Section, Buraidah Maternity and Children's Hospital, Buraidah, Al-Qassim Region, Kingdom of Saudi Arabia
• Abrar H. Alamri, Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia
• Hanin J. AlGethami, Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Kingdom of Saudi ArabiaFollow

Abstract

Objective: To describe the clinical and genetic characteristics of pediatric dopa-responsive dystonia (DRD) and evaluate genotype–phenotype correlations and levodopa response in a Saudi tertiary center.
Methods: This retrospective cohort study included children aged 0–14 years with genetically confirmed DRD evaluated at a tertiary center in Riyadh, Saudi Arabia, between 2015 and 2026. Demographic, clinical, genetic, and treatment-related data were collected and analyzed. Dystonia severity before and after treatment was assessed using the Fahn–Marsden Dystonia Rating Scale.
Results: Twenty patients were analyzed, and the most commonly affected gene was 6-pyruvoyl-tetrahydropterin synthase (PTS) (60.0%). Significant associations were identified between genotype and both dystonia pattern (p = 0.002) and age at onset (p = 0.004). Misdiagnosis rates differed significantly between genetic subgroups (p = 0.023). Most patients showed favorable response to levodopa, although treatment response did not differ significantly between genotypes (p = 0.292).
Conclusion: This study highlights the clinical and genetic heterogeneity of pediatric DRD and emphasizes the importance of early recognition and timely levodopa initiation to improve outcomes. Further multicenter studies are needed to better characterize genotype–phenotype correlations and long-term outcomes in pediatric DRD.

Article Type

Original Article

First Page

399

Last Page

406

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

Recommended Citation

Alzaid, Saleh A.; Almutairi, Muneer M.; Alamri, Abrar H.; and AlGethami, Hanin J. (2026) "Clinical and Genetic Characterization of Pediatric Dopa-Responsive Dystonia in Saudi Arabia: A Tertiary Care Cohort Study," Neurosciences: Vol. 31: Iss. 4, Article 7.
DOI: https://doi.org/10.17712/1658-3183.2819