Primary care
Recommendation 1
No definitive or curative treatments however, janus kinase inhibitors are useful in suppressing interferon activation.
Aicardi-Goutières Syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Rare disease causing encephalopathy
Common symptoms
Leukoencephalopathy and may result in severe intellectual and physical disability. [ ]
When to suspect
Recommendation 1
Based on clinical features in addition to characteristic neuroimaging and laboratory findings.
How to test
Recommendation 1
Based on clinical features in addition to characteristic neuroimaging and laboratory findings.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
No definitive or curative treatments however, janus kinase inhibitors are useful in suppressing interferon activation.
Further support
Recommendation 1
~ 2 US-based physicians . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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