Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease characterized by muscle weakness and stiffness, and developmental delays. Its signs and symptoms tend to worsen late in the day or when a person is tired, and to improve after sleep or a good rest.
AADC deficiency can affect many aspects of a person’s life.
The muscle weakness caused by AADC deficiency can mean that it is difficult for patients to breathe, especially at night when breathing is slowed during sleep. AADC deficiency patients can also have “spells” or “attacks” during which muscles spasm and breathing can be very labored.
Some patients will need breathing support during attacks, or at night.
Many patients with AADC deficiency have problems sleeping or experience disturbed sleep. Symptoms can worsen when people are tired or not getting enough sleep, so it is a good idea to work with physicians to minimize sleep disturbances (like sleep apnea).
People with this disease are born showing weak muscle tone, which can make suckling and swallowing difficult. It is important for patients to get the nutrients they need, even if they are not able to eat as much as they should. Parents and caregivers can work with a dietitian to establish nutritional guidelines, a diet plan, and suggestions for meals. For patients who cannot eat enough, supplements or vitamins may be necessary.
Some patients may need to work with a speech therapist to strengthen jaw and throat muscles, helping to make eating easier.
AADC deficiency patients are developmentally delayed, meaning it can take longer for them to reach milestones like crawling and walking. Physical and occupational therapists can design an exercise program to safely build muscle strength, flexibility, and range of motion. Some patients may need support devices like orthotic braces to help with walking.
Blood pressure and cardiac arrest
Low blood pressure is a symptom of AADC deficiency, and people with this disease can faint when their blood pressure drops. These people are also more likely to experience cardiac arrest than others. Some may need medication for these conditions.
Pain and its management
People with AADC deficiency may experience episodes, called oculogyric crises, in which the eyes rotate in unusual ways. Many show irritability and agitation during these episodes, and can experience pain and muscle spasms. These episodes, if frequent, may require treatment such as pain medication and muscle relaxants.
It can be difficult to ensure that children with rare diseases are getting the care they need at school and daycare. It is a good idea for parents and caregivers to discuss the child’s needs with both school officials and the child’s teachers. Parents may need to file an individualized education plan (IEP) to outline any accommodations that the child needs (extra time to get between classes, for example, or exemptions from physical education classes).
With the nurse’s office, parents should file a treatment plan, which outlines the patient’s disease, symptoms, and treatment options. The treatment plan should also contain information on any medication that the child is taking, and their dosage and timing, especially if the school nurse will need to administer them. The treatment plan should be updated after every doctor’s appointment.
People with AADC deficiency need care and supervision that extends throughout adulthood. Long-term mobility problems have been reported in some patients.
Providing constant care and supervision to a child with AADC deficiency can be draining. Caregivers are encouraged to be patient with themselves and to ask others for help. It can also be helpful to train another person to share the care burden in case of emergency, or at night, so caregivers can sleep well. Connecting with other parents of children with rare diseases like AADC deficiency is also often helpful.
Last updated: September 9, 2019
AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.