Early infantile epileptic encephalopathy-17

GNAO1 encephalopathy


Type of disease: Rare Condition or Disease

GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia). The severity of symptoms can vary. Symptoms may be triggered by strong emotions, illness, and purposeful movements. GNAO1 encephalopathy is caused by mutations in the GNAO1 gene and inheritance is autosomal dominant. Treatment aims to relieve individual symptoms and may not be effective for all people. In some cases, movement disorders have improved after the placement of a deep brain stimulator (DBS) device. Some have had improvement of seizures with anti-seizure medications or with a ketogenic diet, but others have not. While the long-term outcome has not been well-studied, the disease is typically very severe, with some people losing their motor skills in the early stages of the disease.

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