You are using an outdated browser. Please upgrade your browser to improve your experience and security.

Skip to content

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.

PTC Pinpoint™ offers no-cost genetic testing for individuals who have symptoms consistent with AADC deficiency

Learn more or order a test

Sign up to stay connected

Get more information