Author Archives: Emily Malcolm, PhD

Seizure Diaries for AADC Deficiency

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that causes communication problems between nerve cells in the brain and the body. As a result, patients with the disease develop movement disorders among other symptoms. Many patients also experience seizures. Seizure diaries can help…

Oculogyric Crises in AADC Deficiency

One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, which can be frightening for patients and their parents and caregivers. What happens in an oculogyric crisis? An oculogyric crisis occurs when the muscles of the eye spasm, sometimes during seizures. Patients…

Vaccines and AADC Deficiency

Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be wondering whether vaccines are safe for these patients. What are vaccines? A vaccine is a treatment that “trains” your immune system to produce antibodies against a disease without getting sick. Vaccines generally contain…

Clinical Trials and AADC Deficiency

There have been only about 100 cases of aromatic L-amino acid decarboxylase (AADC) deficiency described in the medical literature. It is very difficult to develop effective treatments when the patient population is so small. But one way patients can help with research into new treatments is to participate…