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Other Names for this Disease
- Aicardi Goutieres syndrome
- Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
- Pseudo-torch syndrome
- Pseudotoxoplasmosis syndrome
- Aicardi-Goutieres syndrome type 1
- Aicardi-Goutieres syndrome type 2
- Aicardi-Goutieres syndrome type 3
- Aicardi-Goutieres syndrome type 4
- Aicardi-Goutieres syndrome type 5
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 It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin.
Last updated: 10/8/2013
- Aicardi-Goutieres syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome. Accessed 7/13/2012.
- Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed 7/13/2012.
- Ada Hamosh. AICARDI-GOUTIERES SYNDROME 1. Online Mendelian Inheritance in Man (OMIM). 01/09/2013; http://omim.org/entry/225750. Accessed 10/8/2013.
- Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome. Accessed 7/13/2012.
- Genetics Home Reference (GHR) contains information on Aicardi-Goutieres syndrome. This website is maintained by the National Library of Medicine.
- The United Leukodystrophy Foundation has developed an information page on Aicardi-Goutieres syndrome. Click on the link above to view this information page.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aicardi-Goutieres syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aicardi-Goutieres syndrome. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.