These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. [hal.archives-ouvertes.fr]

If only one copy of a gene’s pair has the mutation, a person will not present with symptoms of AGS, but will be a carrier of AGS. When two carriers have children together, the odds are one in four that any child they produce will have AGS. [chop.edu]

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 2014a;45:386–93. [PubMed: 25243380] Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. [ncbi.nlm.nih.gov]

• Fever

  When symptoms appear, they may include: Intermittent, unexplained fever Irritability or inconsolable crying Skin problems, including chilblains (rash, lesions, or swelling on fingers, toes and ears that get worse in cold weather) Weak or stiffened muscles [chop.edu]

  Affected individuals may develop intermittent fevers in the absence of infection (sterile pyrexias) and may experience seizures. Over time, individuals with AGS slowly lose their ability to function due to the loss of previously attained milestones. [huntershope.org]

• Crying

  When symptoms appear, they may include: Intermittent, unexplained fever Irritability or inconsolable crying Skin problems, including chilblains (rash, lesions, or swelling on fingers, toes and ears that get worse in cold weather) Weak or stiffened muscles [chop.edu]

  During this phase of the disorder, symptoms can include inconsolable crying, extreme irritability and feeding difficulties. [huntershope.org]

• Feeding Difficulties

  difficulties A decline in growth of the head Developmental delays Seizures In later-onset AGS, these symptoms may last for several months. [chop.edu]

  During this phase of the disorder, symptoms can include inconsolable crying, extreme irritability and feeding difficulties. [huntershope.org]

• Inflammation

  In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid (CSF). CSF is the fluid that surrounds the brain and spinal cord (central nervous system). [huntershope.org]

  The symptoms can become more severe over time, and can include smaller head size (microcephaly), liver inflammation, seizures and skin rashes. [chop.edu]

• Poor Feeding

  Symptoms of early-onset AGS Infants with early-onset AGS have jittery behavior and poor feeding ability from birth. They also have neurological and liver abnormalities at birth, which can be detected through imaging tests. [chop.edu]

  Their jittery behavior and poor feeding ability mimic a congenital viral infection. [huntershope.org]

• Hypertension

  Children with AGS should also be monitored for: Signs of glaucoma (with a yearly test) Diabetes insipidus and underactive thyroid Specific problems with the heart and lungs, including pulmonary hypertension and inflammatory cardiomyopathy Problems with [chop.edu]

• Small Head

  As a result, many develop an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid (CSF). [huntershope.org]

• Muscle Spasticity

  Later-Onset Form Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays [huntershope.org]

• Skin Lesion

  About 40 percent of people with AGS have painful, itchy skin lesions called chilblains. Chilblains usually develop on the fingers, toes, and ears. These puffy, red lesions are caused by inflammation of small blood vessels. [huntershope.org]

• Dystonia

  Patients with Aicardi-Goutières syndrome (AGS), the first described of the monogenic interferonopathies, exhibit dystonia, spasticity, developmental delay, intra-cranial calcifications and white matter abnormalities. [theses.fr]

  They also have significant neuromuscular problems including muscle stiffness (spasticity), involuntary tensing of various muscles (dystonia) especially in the arms, and weak muscle tone (hypotonia) in the trunk. [huntershope.org]

  Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. Mov Disord. 2006;21:1510–3. [PubMed: 16817193] Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. [ncbi.nlm.nih.gov]

• Encephalopathy

  Usually within the first year of life, individuals affected by Aicardi-Goutières Syndrome (AGS) experience an episode of severe brain dysfunction (encephalopathy). This can typically last for several months. [huntershope.org]

  Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr. 1994;153:510–6. [ncbi.nlm.nih.gov]

• Irritability

  When symptoms appear, they may include: Intermittent, unexplained fever Irritability or inconsolable crying Skin problems, including chilblains (rash, lesions, or swelling on fingers, toes and ears that get worse in cold weather) Weak or stiffened muscles [chop.edu]

  During this phase of the disorder, symptoms can include inconsolable crying, extreme irritability and feeding difficulties. [huntershope.org]

• Seizure

  Seizures may need to be managed with medication. [chop.edu]

  Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid. [huntershope.org]

There is no known cure for AGS, but treatment is available to manage symptoms and to help keep children comfortable. Because children with AGS present with different symptoms, the treatment plan for each child is unique. [chop.edu]

Is there a treatment for AGS? Although there is currently no cure for AGS, symptomatic treatment is beneficial. [huntershope.org]

There are some clinical trials going on for Aicardi-Goutières Syndrome aimed at finding new methods for treating and ultimately preventing or curing AGS. To learn more click here to see a list of clinical trials for AGS. [huntershope.org]

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell. 2007;131:873–86. [PubMed: 18045533] [ncbi.nlm.nih.gov]