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Aicardi-Goutières syndrome
Aicardi-Goutières syndrome is an inherited disease that mainly affects the brain, immune system, and the skin
Prevalence
Age of Onset
ICD-10
G31.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Aicardi-Goutières syndrome is a mostly inherited disease that primarily affects the brain, immune system, and skin
FACT
It was first described in 1984 by Jean Aicardi and Francoise Goutières, after they found 8 children from 5 families presenting with a severe early onset encephalopathy
FACT
Loss of white matter in the brain and abnormal deposits of calcium in the brain leads to an early-onset severe brain dysfunction that usually results in severe intellectual and physical disability
FACT
Most Aicardi-Goutières syndrome cases present in early infancy, sometimes after an apparently normal period of development
FACT
Up to 40% of patients develop chilblain lesions, most typically on the toes and fingers
Interest over time
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Common signs & symptoms
Arrhinencephaly
Global developmental delay
Intellectual disability, profound
Multifocal cerebral white matter abnormalities
Porencephalic cyst
Current treatments
Unfortunately, there is currently no cure for AGS, and treatment mainly focuses on managing symptoms and providing supportive care. Here are some common approaches to managing AGS:
Symptomatic Treatment
Various medications and therapies may be used to manage symptoms associated with AGS, such as seizures, movement disorders, and developmental delays. For example, antiepileptic drugs (AEDs) may be prescribed to control seizures, while physical, occupational, and speech therapies can help address developmental delays and improve quality of life
Immunomodulatory Therapies
Given the immune system's involvement in AGS, immunomodulatory therapies may be considered to help regulate the immune response. These therapies aim to suppress the inappropriate immune activation seen in AGS. Examples of immunomodulatory agents that have been used include corticosteroids, interferon-alpha, and immunosuppressive drugs like methotrexate
Multidisciplinary Care
AGS often requires a multidisciplinary approach involving various healthcare specialists, including neurologists, geneticists, pediatricians, developmental specialists, and others. This team-based approach ensures comprehensive care tailored to the individual needs of patients with AGS
Supportive Care
Supportive care measures focus on addressing the specific needs of individuals with AGS and their families. This may include providing resources for special education, behavioral therapy, assistive devices, and counseling services to support caregivers and improve the overall quality of life for affected individuals
Research and Clinical Trials
As AGS is a rare disorder, ongoing research efforts are essential for understanding its underlying mechanisms and developing potential targeted therapies. Participation in clinical trials may offer access to experimental treatments and contribute to advancing the understanding and treatment of AGS.