Retrospective chart review of inherited and idiopathic dystonia
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, majo...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1504744/full |
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| author | A. Alakkas H. Shinawi J. A. Bajwa O. Alsinaidi A. Al-Hashim |
| author_facet | A. Alakkas H. Shinawi J. A. Bajwa O. Alsinaidi A. Al-Hashim |
| author_sort | A. Alakkas |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-923e07359fa84073acd119a55b592ea9 |
| institution | DOAJ |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-923e07359fa84073acd119a55b592ea92025-08-20T02:57:53ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-03-011610.3389/fgene.2025.15047441504744Retrospective chart review of inherited and idiopathic dystoniaA. Alakkas0H. Shinawi1J. A. Bajwa2O. Alsinaidi3A. Al-Hashim4Movement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaDepartment of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi ArabiaDystonia 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.https://www.frontiersin.org/articles/10.3389/fgene.2025.1504744/fulldystoniageneticsinheritedGCH1 variantsmiddle east |
| spellingShingle | A. Alakkas H. Shinawi J. A. Bajwa O. Alsinaidi A. Al-Hashim Retrospective chart review of inherited and idiopathic dystonia Frontiers in Genetics dystonia genetics inherited GCH1 variants middle east |
| title | Retrospective chart review of inherited and idiopathic dystonia |
| title_full | Retrospective chart review of inherited and idiopathic dystonia |
| title_fullStr | Retrospective chart review of inherited and idiopathic dystonia |
| title_full_unstemmed | Retrospective chart review of inherited and idiopathic dystonia |
| title_short | Retrospective chart review of inherited and idiopathic dystonia |
| title_sort | retrospective chart review of inherited and idiopathic dystonia |
| topic | dystonia genetics inherited GCH1 variants middle east |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1504744/full |
| work_keys_str_mv | AT aalakkas retrospectivechartreviewofinheritedandidiopathicdystonia AT hshinawi retrospectivechartreviewofinheritedandidiopathicdystonia AT jabajwa retrospectivechartreviewofinheritedandidiopathicdystonia AT oalsinaidi retrospectivechartreviewofinheritedandidiopathicdystonia AT aalhashim retrospectivechartreviewofinheritedandidiopathicdystonia |