VIDEO: How does AADC deficiency impact patients and their families?
Warren A. Marks, MD, explains how children and their families are impacted by AADC deficiency
Marks: So, most children with AADC deficiency have significantly shortened lifespans. Certainly in the classic variance of AADC, their lifespans are significantly shortened. It’s a very disabling disorder. These disorders—these dystonias can be very problematic. The low tone is problematic. They don’t feed well. They can’t control their blood pressure, their temperature, so they get uncontrolled fevers. When they’re sick, they can develop dystonic storming or uncontrolled dystonia, which can be life threatening in and of itself. Like many other disorders that involve tone and development in children, it has a substantial impact on the family. Not just the child, but really the whole family.
