Beyond the Diagnosis of Cerebral Palsy: A Decade of Misdiagnosis Before Clinical Reappraisal Revealed GCH1-Associated Dopa-Responsive Dystonia
Merab Gurgenidze1*, Teona Shatirishvili2
1Resident, Department of Pediatric Neurology, Iashvili Children's Central Hospital, Tbilisi, Georgia.
2Head, Department of Pediatric Neurology, Iashvili Children's Central Hospital, Tbilisi, Georgia.
*Corresponding Author: Merab Gurgenidze, Resident of Pediatric Neurology, Iashvili Children's Central Hospital, Tbilisi, Georgia.
DOI: https://doi.org/10.58624/SVOANE.2026.07.021
Received: July 12, 2026
Published: July 30, 2026
Citation: Gurgenidze M, Shatirishvili T. Beyond the Diagnosis of Cerebral Palsy: A Decade of Misdiagnosis Before Clinical Reappraisal Revealed GCH1 Associated Dopa-Responsive Dystonia. SVOA Neurology 2026, 7:4, 143-149. doi.org/10.58624/SVOANE.2026.07.021
Abstract
Dopa-responsive dystonia (DRD) is an uncommon but highly treatable movement disorder that may closely mimic cerebral palsy (CP). We report a 16-year-old female who carried a diagnosis of spastic cerebral palsy for nearly ten years despite progressive symptoms, prolonged rehabilitation, and bilateral Achilles tendon lengthening procedures. During routine neurological reassessment at Iashvili Children's Central Hospital, careful history-taking identified marked diurnal fluctuation. Re-evaluation of previously performed genetic testing revealed a GCH1 variant of uncertain significance in the appropriate phenotypic context. Treatment with levodopa/benserazide resulted in remarkable functional recovery, including independent ambulation within three months. This case highlights the importance of longitudinal reassessment, avoidance of diagnostic anchoring, and phenotype-guided interpretation of genetic findings.
Keywords: Cerebral palsy; Dopa-responsive dystonia; GCH1; Diagnostic delay; Levodopa; Pediatric neurology
