Encephalopathy-Basal Ganglia-Calcification

Common Name(s)

Encephalopathy-Basal Ganglia-Calcification

Also known as Aicardi-Goutières syndrome (AGS), encephalopathy-basal ganglia-calcification is a rare inherited disease that causes calcification in the basal ganglia. The disease becomes apparent at birth or usually within the first few days of life. Symptoms include feeding problems, irritability, epilepsy, and skin lesions. There have only been 120 cases reported in literature so far. In 2006, several genetic mutations (changes in DNA) were found to be associated with the disease. Currently there is no cure for this disease, however symptoms can be managed. The disease exists in several forms, ranging from severe to mild. AGS of the severe form is typically fatal. However, there have been reports of prolonged life of patients with the mild form of AGS.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalopathy-Basal Ganglia-Calcification" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Encephalopathy-Basal Ganglia-Calcification" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Encephalopathy-Basal Ganglia-Calcification" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.