Finding new cases of a rare brain condition

D2-HGA is a rare condition that affects the brain. It usually shows up in young children resulting in growth delays, seizures and weak muscle tone. These signs get worse over time. This can cause severe disability or even death at a young age. Changes in either one of two genes can cause this condition. These changes can affect the proteins these genes make. Sometimes, the changes damage the protein. But, sometimes the protein changes are minor. In these cases, the symptoms can be mild and it is likely that many more people have this condition. Vanderbilt researchers will look for gene changes in people who have symptoms of D2-HGA. This study will give us a better idea of how many more people may have this condition and could help doctors be able to treat these people.