Presentation
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]
Entire Body System
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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]
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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]
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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]
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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]
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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]
Musculoskeletal
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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]
Skin
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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]
Neurologic
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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]
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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]
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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]
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Dystonia
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]
Treatment
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]
Prevention
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]