Objective: To report a case initially diagnosed as cerebral palsy, later identified as a GNAO1 gene–related movement disorder and to illustrate the therapeutic impact of genetic diagnosis.

Background: Mutations in the GNAO1 gene are associated with early-onset epileptic encephalopathy and severe hyperkinetic movement disorders. Paroxysmal exacerbations may lead to life-threatening status dystonicus. Evidence suggests that deep brain stimulation (DBS) should be considered early, particularly in patients with specific GNAO1 variants and refractory hyperkinetic movement disorders.

Method: We describe a 44-year-old woman with lifelong developmental delay and progressive hyperkinetic movements. Early motor delay was noted in infancy, and she was diagnosed with cerebral palsy of unclear etiology. At approximately 18 months, she developed recurrent episodes of abnormal involuntary movements with dystonic and dyskinetic movements of the head, trunk, and limbs with intermittent ballistic features. Episodes lasted minutes to hours and were triggered by heat, emotional stress, and voluntary activity. Over time, they increased in severity and frequency, leading to progressive functional decline. Later characterized as episodic dystonic dyskinesias with a semi-volitional component, cognitive behavioral therapy was considered alongside pharmacologic management and botulinum toxin injections. Decline eventually resulted in loss of independent mobility and increasing dependence for feeding and communication.

Results: Genetic testing identified a pathogenic variant in the GNAO1 gene (c.626G>A p.Arg209His), establishing the diagnosis of GNAO1-related movement disorder. Due to medically refractory hyperkinetic symptoms, bilateral DBS targeting the globus pallidus internus was pursued. Following surgery and initial programming, dystonia severity improved substantially, with the Fahn-Marsden Dystonia Rating Scale score improving from 94.5 to 53.

Conclusion: This case highlights a longstanding diagnosis of cerebral palsy later clarified as GNAO1 gene-related movement disorder and demonstrates significant improvement in severe dystonia following pallidal DBS. In addition, it emphasizes the potential for prolonged diagnostic delay in patients labeled with cerebral palsy and underscores the importance of considering genetic testing in individuals with atypical or progressive hyperkinetic movement disorders.

References: 1. Briere L, Thiel M, Sweetser DA, Koy A, Axeen E. GNAO1-Related Disorder. 2023 Nov 9. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 37956232.
2. Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. PMID: 38903163; PMCID: PMC11188927.
3. Brecht Decraene, Sara Smeets, Daan Remans, Els Ortibus, Wim Vandenberghe, Bart Nuttin, Tom Theys, Philippe De Vloo. Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis. Neuromodulation: Technology at the Neural Interface, Volume 27, Issue 3, 2024, Pages 440-446, ISSN 1094-7159. https://doi.org/10.1016/j.neurom.2023.10.187. (https://www.sciencedirect.com/science/article/pii/S1094715923009388)

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MDS Abstracts - https://www.mdsabstracts.org/abstract/from-cerebral-palsy-to-gnao1-related-movement-disorder-an-adult-diagnosis-with-marked-response-to-pallidal-deep-brain-stimulation/