The first GNAO1 patients were only identified in 2013. Because of that, the scientific community is still beginning to realize the spectrum of symptoms and impacts from mutations in GNAO1. Some patients suffer from seizures, others from abnormal movements and some both. The seizures are often refractory, and the patients seem to cycle through numerous medications as they try to find relief. The abnormal movements seem to worsen as the patients age. Several patients have benefited from deep brain stimulation surgery, including the youngest patient in the world to receive the procedure (a 2-year-old in the UK).
There is no known treatment or cure for GNAO1. Attempts to manage symptoms often involve numerous medications. Most GNAO1 patients are non-verbal and wheel chair dependent. Some of the patients have intellectual disabilities, but many possess higher cognitive function than may be initially appreciated.
While some patients experience less severe symptoms, some of the more impacted patients rely on tracheotomies and gastronomy tubes to survive. Abnormal movements and low muscle tone often prevent patients from activities like holding their heads up, swallowing food without aspirating, and bringing a spoon to their mouth.
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Below are links to a few of the relevant medical journals on GNAO1. More can be found at the US National Library of Medicine.
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.