Abstract
BACKGROUND: GNAO1-related disorders (GNAO1-RD) encompass developmental delay, epilepsy and movement disorders, including dyskinetic crises. OBJECTIVES: To explore the characteristics of dyskinetic crises in GNAO1-RD, their impact and the challenges parents face. METHODS: A cross-sectional EU survey of 26 parents of children with GNAO1-RD collected demographic, clinical, and management-related data. RESULTS: Dyskinetic crises were experienced by 80% of children. They began at a mean age of 4.17 ± 2.61 years and varied widely in frequency and duration, with triggers including infections and emotions. Dyskinetic crises significantly impacted quality of life (QoL), motor function, and emotional well-being. Medications were variably effective, and 10 children underwent deep brain stimulation with mixed outcomes. Parents reported challenges in managing crises and accessing support services, with financial burdens. CONCLUSIONS: Dyskinetic crises in GNAO1-RD significantly impact QoL and present complex management challenges. Variability in outcomes underscores the need for optimized treatment protocols, better coordination, and accessible resources for affected families.