Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency

Stephen L. Nelson, Jr, MD, PhD

Disclosures

September 18, 2020

The most often described movement disorders associated with AADC deficiency are oculogyric crises, dystonia, and hypokinesia. Oculogyric crises, which are characterized by abnormal rotation of the eyeballs and gaze deviation, uncontrolled head and neck movements, muscle spasms, agitation, and irritability, can last several hours and tend to recur every 2-5 days.

Hypotonia is one of the key symptoms of AADC deficiency, along with movement disorders, developmental delay, and autonomic symptoms. The key symptoms can range from mild to very severe. Ptosis, excessive sweating, and nasal congestion are some of the most prominent autonomic signs of the disease.

Learn more about the signs and symptoms of AADC deficiency.

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