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Common misdiagnoses

AADC deficiency is difficult to diagnose because the symptoms can be similar to other disorders

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Although symptoms are often seen when the child is still an infant, a diagnosis may take a long time, and you might need to have your child seen by a number of specialists.

Because many of the symptoms of aromatic L-amino acid decarboxylase (AADC) deficiency can be similar to other disorders, it is often misdiagnosed.

However, you should consider speaking to your child’s doctor about testing for conditions including AADC deficiency if your child has the following symptoms:

  • Low muscle tone, which is sometimes described as ‘floppiness’
  • Missed developmental milestones, such as being unable to:
    • Lift and control their head
    • Babble or say words
    • Crawl, sit, or stand without support
    • Walk
    • Accompanied by symptoms like excessive sweating, droopy eyelids, and a stuffy or runny nose
  • Abnormal movements, including involuntary eye movements or sudden jerking, flailing, or twisting

In addition, if your child has had several tests, but you still don’t have a diagnosis for what’s causing their low muscle tone, ask your doctor if your child should be tested for AADC deficiency.

Conditions with symptoms that are similar to AADC deficiency

If you think your child should be tested for AADC deficiency, talk to your doctor

GL-AADC-1073 | March 2022

Welcome to About AADC

A website for parents and caregivers of children with AADC deficiency, and members of the public interested in the condition. This website has been provided by PTC Therapeutics.

This educational website provides information to support awareness of a rare neurotransmitter disorder called aromatic L-amino acid decarboxylase (AADC) deficiency.