International GNAO1 Awareness Day Date in the current year: October 1, 2025

The GNAO1 gene encodes a protein called guanine nucleotide-binding protein G(o) subunit alpha (Gαo), which transmits signals from cell surface receptors to the inside of the cell. Mutations in this gene can cause neurological disorders, including epileptic encephalopathy, movement disorders, and developmental delays. These disorders affect patients differently depending on where the mutation has occurred in the gene.

GNAO1-NDD (GNAO1-associated rare neurodevelopmental disorder) is a very rare disease that was first described in 2013. Due to its rarity, the disorder and its natural course are poorly understood. However, researchers are working to better understand the disease and find more appropriate treatments to alleviate its symptoms.

GNAO1-NDD symptoms typically appear within the first year of life, though the age of onset depends on the predominant presentation (epilepsy, movement disorder, or both). Patients with an epilepsy-predominant presentation typically experience their first seizures within the first three months of life. They can experience different types of seizures, including generalized (tonic-clonic), motor (clonic or myoclonic), and nonmotor (absence). Seizures may respond well to anticonvulsants or be drug-resistant.

The average age of onset of the movement disorder in patients with GNAO1-NDD is two years, ranging from three months to eight years. The most common manifestation is dystonia, which involves abnormal involuntary movements or fixed postures. Other manifestations may include ataxia, chorea, dyskinesia, hypotonia, and stereotypies.

Other common symptoms include failure to meet developmental milestones; gastrointestinal (GI) complications, such as constipation and feeding difficulties; drooling; speech and language deficiencies; autonomic dysregulation (the inability of the autonomous nervous system to properly regulate body temperature); sleep disturbances, such as insomnia and sleep apnea; musculoskeletal complications, such as joint contractures, scoliosis, and hip displacement; daytime fatigue; and psychiatric issues, such as anxiety and irritability. Patients may experience some of these symptoms, but not necessarily all of them.

Like most rare genetic diseases, GNAO1-NDD is incurable. Treatment focuses on addressing individual symptoms and may include anticonvulsant medications for seizures; medications for movement disorders, drooling, and constipation; augmentative communication devices for speech difficulties; braces for orthopedic complications; and physical, occupational, and speech therapies for developmental delay.

Observed on October 1, International GNAO1 Awareness Day is promoted by the US-based Bow Foundation and other GNAO1 foundations, including Famiglie GNAO1 (Italy), Stitching GNAO1 (the Netherlands), GNAO1 Tuki ry (Finland), and GNAO1 España (Spain). The day’s main goal is to raise awareness of this rare condition, support affected families, and encourage further research into GNAO1 disorders.