Kelly Heger, Founder of the AADC Family Network, provides an overview of aromatic L-amino acid decarboxylase (AADC) deficiency. Kelly is the mother and caregiver of Jillian Heger, who lives with AADC deficiency.
As Ms. Heger explains, 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.
According to Ms. Heger, the following are common signs and symptoms of AADC deficiency:
- Irritability
- Excessive sleeping
- Hypotonia
- Developmental delay
- Autonomic issues including excessive sweating, temperature instability, ptosis
- Vomiting
- Tremors and dystonia
- Startle seizures
- Oculogyric crises, which are characterized by abnormal rotation of the eyeballs, muscle spasms, and uncontrolled head and neck muscle action.
AADC deficiency, as Ms. Heger states, is extremely rare and often misdiagnosed due to a lack of awareness about the disease.
AADC Awareness Day is Saturday, October 23rd and the AADC Family Network is having an event Friday, October 22nd 11 am EST being held on Facebook Live. For more information, visit https://www.aadcfamilynetwork.org/
For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/