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.

Physical challenges

Breathing difficulties

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.

Sleeping

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).

Eating

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.

Mobility

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.

Education

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.

Support networks

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

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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.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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