Despite symptom onset during infancy, diagnosis is typically delayed1
Mean age of diagnosis
Age range of diagnosis
2 months to 23 years1
The challenge of a correct diagnosis: conditions with symptoms similar to those of AADC deficiency
Possible AADC deficiency misdiagnoses
|AADC deficiency symptoms1,3||May be diagnosed as4-7|
If you have patients with cerebral palsy of unknown etiology or patients with epilepsy that is refractory to treatment, you may want to consider an alternate diagnosis of a neurotransmitter disorder such as AADC deficiency.
WATCH: Learn more about common misdiagnoses of AADC deficiency
Keith Hyland, PhD, details common misdiagnoses of AADC deficiency and explains what physicians should look for to differentiate AADC deficiency from other conditions
Look for key differentiating signs and symptoms of AADC deficiency
One or a combination of the following red-flag diagnostic clues should prompt investigation for a neurotransmitter disorder, including AADC deficiency:
Episodes of sustained upward or lateral deviation of the eyes, rhythmic orofacial movements, backward and lateral flexions of the neck, tongue protrusion, and jaw spasms that can sometimes be confused with seizures9,10
History of normal EEG and neuroimaging inconsistent with presentation1,3,6,9
One study showed that only a small proportion of patients with AADC deficiency had an abnormal EEG, MRI, or CT2
Multiple signs of autonomic dysfunction9
Motor symptoms become exacerbated or more prominent late in the day and improve with sleep4,11
If you suspect your patient may have one or a combination of these distinguishing signs and symptoms, consider testing for AADC deficiency.
CT=computed tomography; EEG=electroencephalogram; MRI=magnetic resonance imaging.