AADC deficiency
AADC deficiency, or aromatic L-amino acid decarboxylase deficiency, is a rare genetic disorder caused by mutations in the DDC gene. This condition affects the production of important neurotransmitters, such as dopamine and serotonin, leading to various neurological symptoms. Individuals with AADC deficiency may experience developmental delays, movement disorders, and difficulties with muscle control.
Diagnosis typically involves genetic testing and measuring neurotransmitter levels in the body. Treatment options are limited but may include medications to manage symptoms and supportive therapies. Early intervention can help improve quality of life for those affected by this condition.