Aicardi Goutieres Syndrome 6 C3539013
A rare genetic disorder affecting the brain and immune system in infants. It causes developmental delays, movement problems, and brain abnormalities. Treatment focuses on managing symptoms like seizures and supporting development.
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.
Warning signs - seek immediate care
Early-onset encephalopathy
Dystonia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental regression
(neurologic)Sensorineural 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
Corticosteroid Therapy
High-dose corticosteroid treatment to suppress inflammatory responses in the central nervous system and reduce vasculitic changes.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Occupational Therapy
Structured occupational therapy to maintain and improve activities of daily living, fine motor skills, and functional independence.
Additional treatment options
Immunological Laboratory Monitoring
Regular blood tests including cytokine panels, inflammatory markers, and immune cell counts to guide treatment adjustments.
monitoringAdaptive Lifestyle Modifications
Environmental adaptations and assistive devices to support mobility, communication, and daily activities while maximizing independence.
lifestyleNutritional Support
Specialized dietary planning to address feeding difficulties, ensure adequate caloric intake, and support overall growth and development.
dietaryWhen 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 6 C3539013?
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.
Crow YJ, Chase DS, Badhwar A. Emergency management of Aicardi-Goutières syndrome: consensus guidelines. Neurology. 2022.
Rice GI, Rodero MP, Crow YJ. The monogenic interferonopathies: Aicardi-Goutières syndrome and related conditions. Nat Rev Neurol. 2021.
Orcesi S, Ponzio M, Fazzi E. Clinical spectrum of Aicardi-Goutières syndrome: from infancy to childhood. Orphanet J Rare Dis. 2020.
Kavanagh D, Gelfand JM, Uhlemann AC. Therapeutic targeting of interferon pathways in Aicardi-Goutières syndrome type 6. J Clin Invest. 2023.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 6 C3539013. 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 20, 2026. · Read our editorial policy