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BRIEF RESEARCH REPORT article
Front. Genet.
Sec. Applied Genetic Epidemiology
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1504744
Retrospective chart review of inherited and idiopathic dystonia
Provisionally accepted- King Fahd Medical City, Riyadh, Saudi Arabia
1 Abstract: Dystonia prevalence and presentation varies both ethnically and geographically. There is a paucity of data on the clinical presentation of dystonia patients in Saudi Arabia and among Arabs. In this study we provide the largest description of dystonia patients in Saudi Arabia. In our population, majority, 42 % of all patients with dystonia had an inherited dystonia, while 34.8% had idiopathic dystonia. In addition, we found 3 patients with homozygous GCH1 variants who displayed the classic phenotype of dopa-responsive dystonia. Two had Variant of Uncertain Significance that has been recently reclassified as likely pathogenic, and another novel homozygous Asp119Asn variant, not previously reported in ClinVar. It is the hope that this paper would be the first step for future prospective studies
Keywords: Dystonia, Genetics, Inherited, GCH1 variants, Middle East
Received: 05 Dec 2024; Accepted: 19 Feb 2025.
Copyright: © 2025 Alakkas, Shinawi, Bajwa, Alsinaidi and Al-Hashim. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Aljoharah Alakkas, King Fahd Medical City, Riyadh, Saudi Arabia
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