What are the symptoms In general terms there are two types of presentation in AGS. Some babies, especially those with AGS1 mutations (see ‘What are the causes?’), experience problems at or very soon after birth. Features include feeding difficulties, abnormal neurological signs, low platelets (blood cells involved in clotting), and liver abnormalities. In contrast, other children, develop normally for the first few weeks or months of life. They then experience the sudden onset of a period of intense irritability, cry a lot for hours at a time, sleep poorly, and can develop fevers without infection. During this period there is a loss of skills. After a few months the disease process seems to ‘stop’. Many individuals with AGS are still stable in their late teens and early twenties. Typical neurological features of AGS include learning problems, stiffness of the limbs with poor body and head control, dystonia (impairment in muscle tone) of the limbs, and seizures (see entry Epilepsy). Although the neurological problems seen in AGS are often severe, a small number of children, usually those with AGS2 or AGS5-7 mutations, display good communication skills, and a few children can have completely normal intellectual development. What are the causes? Seven different genes have been identified that, when damaged by a mutation, can cause Aicardi-Goutières syndrome (AGS). Only one gene is involved in any one family. How is it treated? The following treatments may be used for the management of AGS: management of seizures (which are quite common in more severely affected children) using standard protocolssome children need tube or gastrostomy feeding because of difficulties with feeding secondary to the associated neurological problemschest physiotherapy and antibiotic treatment may be needed for respiratory complications, which can occur secondary to the associated neurological problemsin some cases, treatments may be considered for chilblains Surveillance includes the following: assessment for glaucoma (seen in a small percentage of cases)monitoring of the spine for the development of scoliosis (which can sometimes occur because of muscle imbalance)monitoring for signs of insulin-dependent diabetes mellitus (IDDM) and hypothyroidism (these are rare, but treatable, associations seen in a small percentage of patients)in the case of SAMHD1-related disease, there may be need for monitoring of the blood vessels in the brain with special scans Inheritance patterns and prenatal diagnosis Inheritance patternsAGS is most frequently inherited as an autosomal recessive genetic disorder. This means that for a couple with one affected child there is a 1 in 4 risk of having a further affected child in any future pregnancy. However, there are rare autosomal dominant cases with specific genetic changes in AGS1 and AGS6, and the same dominant situation applies to all cases due to genetic changes in AGS7. Where the disease occurs due to a single ‘new mutation’ in the affected child, known as a sporadic mutation, the risk of recurrence is very low. Very rarely with dominantly inherited disease, a ‘carrier’ parent is at risk of having a more severely affected child. Prenatal diagnosisThe availability of genetic testing allows for confirmation of the diagnosis of AGS in most, but not all, families. For couples where mutations have been identified in their child it may be possible to offer testing during a subsequent pregnancy. Is there support? Contact Professor Yanick Crow: firstname.lastname@example.org Group details last updated July 2018.