What is GNAO1 mutation?
GNAO1 mutation is a rare neurological condition that is characterized by developmental delays, infantile seizures, and uncontrollable movements. The onset of this disease is typically in early childhood.
What are the symptoms of GNAO1 mutation?
Seizures are a major symptom of this disorder, and they begin in early childhood. They are followed by severe intellectual disability, poor muscle tone, chorea, and abnormal movements of the face and tongue. Many people who have this disorder are non-verbal.
These symptoms can be triggered by certain things, such as strong emotions, illness, and certain movements. Severity can vary among individuals.
What causes GNAO1 mutation?
As the name suggests, this disorder is caused by a mutation in the GNAO1 gene. This gene is responsible for coding proteins.
This mutation is passed down in an autosomal dominant trait.
How is GNAO1 mutation diagnosed?
A physical examination and finding of characteristic symptoms is the first step in obtaining a diagnosis. Genetic testing is necessary for confirmation.
What are the treatments for GNAO1 mutation?
There is no cure for GNAO1 mutation; treatment is symptomatic. The issue with treatment is that it is not effective for everyone with this disorder.
In some cases, a deep brain stimulator device has helped with uncontrollable movements. Some people find that anti-seizure medications and a ketogenic diet are effective in treating seizures.
It is recommended that those affected by this disorder find a specialist who is best able to decide treatment.