Health Insights

Taking Care of AADC Caregivers

Caring for a child with physical and mental disabilities is a full-time job that can be stressful. Parents and caregivers can easily feel out of control and overwhelmed when caring for children with AADC deficiency, a rare developmental disorder that causes delayed mental and physical development. Therefore, friends and…

Lumbar Puncture Can Help Diagnose AADC

A lumbar puncture (also called a spinal tap) is a test that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is an extremely rare disease with symptoms that generally appear in the first year of life, including developmental delay, muscle weakness, and involuntary movements. It…

FAQs in AADC

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease with about 100 people in the world diagnosed with it. Because the disease is so rare, it can be very difficult for patients and their families to connect with others and find out information about potential treatment options…