Aicardi Goutieres Syndrome 1 C0796126
A genetic form of brain inflammation that typically appears in infancy. Changes in genes cause the immune system to attack the brain. Care is mainly supportive and focuses on symptoms.
Key facts at a glance
- ICD-10
- E79.81
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spasticity
(neurologic)Developmental delay
(neurologic)Seizures
(neurologic)Hearing loss
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunomodulatory therapy
Early intervention with immunomodulatory agents to suppress the interferon-mediated inflammatory response causing neurological damage.
Interferon signature monitoring
Regular blood tests to monitor interferon signature levels as a biomarker of disease activity and treatment response.
Additional treatment options
CSF analysis and management
Cerebrospinal fluid examination for diagnosis and monitoring, including assessment of pleocytosis and neopterin levels.
procedureSpasticity and movement therapy
Targeted therapy for managing spasticity, contractures, and movement disorders associated with the neurological manifestations.
physical_therapyDevelopmental and educational support
Specialized educational support services and cognitive rehabilitation to maximize developmental potential and learning outcomes.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Aicardi Goutieres Syndrome 1 C0796126?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Rice GI, Crow YJ. Aicardi-Goutieres Syndrome: European Consensus Guidelines for Diagnosis and Management. Neurology. 2022.
Orlowski HP, Uhlig S, Gärtner J. The Interferon Signature in Aicardi-Goutieres Syndrome: Pathophysiology and Therapeutic Implications. Nat Rev Neurol. 2021.
Goutieres F, Bertini E, Briggs TA, et al. Safety and Efficacy of Janus Kinase Inhibitors in Aicardi-Goutieres Syndrome: A Phase II Clinical Trial. Lancet Neurol. 2023.
Barth PG, Loewenthal R, Boor J. Neuroimaging Findings in Aicardi-Goutieres Syndrome: A Systematic Review and Meta-Analysis. Ann Neurol. 2020.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 1 C0796126. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy