Living with Aicardi Goutieres syndrome
A condition with varying symptoms that mainly affects the brain, immune system, and skin, often starting in infancy.
Understanding Aicardi Goutieres syndrome
It is often divided into an early-onset (classic) form and a later-onset form. In the early-onset form, infants can have severe brain dysfunction within the first months of life, stop gaining new skills, and lose skills they had. Seizures can occur. Brain imaging shows loss of white matter, and head growth slows, leading to a small head (microcephaly).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Calcium deposits in the brain
- Loss of brain tissue (brain atrophy)
- Trouble walking (gait problems)
- Problems with movement control
- Autoimmunity (the immune system attacks the body)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Global DARE Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Global DARE Foundation, United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Global DARE Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It lists both autosomal dominant and autosomal recessive inheritance, but doesn't name a gene.
Also known as: ags; aicardi-goutieres syndrome; aicardi-goutières syndrome; cree encephalitis; encephalopathy with basal ganglia calcification; encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Patient organizations
- Global DARE FoundationAicardi Goutieres syndrome · United States
- Aicardi Goutieres Syndrome Advocacy AssociationAicardi Goutieres syndrome · United States
- Hunter's Hope FoundationAicardi Goutieres syndrome · United States
- Leukodystrophy Resource & Research OrganisationAicardi Goutieres syndrome · United Leukodystrophy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Aicardi Goutieres syndrome.
Explore research for Aicardi Goutieres syndrome
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