Encephalopathy-Basal Ganglia-Calcification

Overview

Type of disease: Rare conditions

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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