Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, lists two things what he wished physicians and parents knew about the ultra-rare disease.
AADC deficiency is a rare genetic disorder that affects the nervous and musculoskeletal systems of young patients. It is caused by a defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain.
As Mr. Poulin explains, he thinks it is important for doctors to know the difference between a seizure and an oculogyric crisis, which is characterized by abnormal rotation of the eyeballs, muscle spasms, and uncontrolled head and neck muscle action. For instance, during an oculogyric crisis, an EEG would appear normal.
For both physicians and parents of AADC deficiency patients, Mr. Poulin also notes that early intervention and intensive therapy should begin before a drug treatment becomes available, and that children with AADC deficiency can comprehend language even if they cannot express it.
For more information about this rare genetic disorder, visit our AADC deficiency Panel Discussion on this rare disease.