Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.

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.

© 2025 International Parkinson and Movement Disorder Society.