PRIMARY CARE
Recommendation 1
No definitive or curative treatments however, janus kinase inhibitors are useful in suppressing interferon activation.
Aicardi-Goutières Syndrome
Not Verified
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.
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
Recommendation 1
~ 2 trials
Sources
No data available
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