Aicardi Goutieres Syndrome 1 Autosomal Dominant C3150315
An inherited form of brain inflammation with symptoms similar to other types. It is passed down through families and causes neurological problems. Management involves supportive care and symptom treatment.
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
Interferon-alpha pathway modulation
Treatment aims to modulate the overactive interferon signaling pathway which is characteristic of Aicardi-Goutières syndrome. Janus kinase inhibitors may be considered to suppress inflammatory responses.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular neurological assessment
Comprehensive neurological monitoring including MRI imaging, developmental assessments, and seizure evaluation to track disease progression and guide treatment adjustments.
Additional treatment options
Antiepileptic therapy
Management of seizures using appropriate antiepileptic medications based on seizure type and patient age. Selection should account for potential drug interactions.
medicationEarly intervention physiotherapy
Structured physical therapy program designed to maintain motor function, manage spasticity, and support developmental progress through age-appropriate exercises and positioning.
physical_therapyNeuropsychological support
Cognitive and behavioral support services including family counseling, developmental therapy, and educational planning to address the psychological impact of the condition.
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 Autosomal Dominant C3150315?
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, Manel N. Aicardi-Goutières syndrome: Immunity and interferon signaling in Mendelian lupus. Nat Rev Immunol. 2020.
Orphanet. Clinical practice guidelines for Aicardi-Goutières syndrome. Orphanet J Rare Dis. 2021.
Rice GI, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with IFIH1 mutations. J Clin Invest. 2021.
Sanchez-Montez A, et al. Genotype-phenotype correlation in Aicardi-Goutières syndrome: A systematic review. Mol Genet Metab. 2023.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy