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Common misdiagnoses

AADC deficiency is difficult to diagnose because the symptoms are 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 AADC deficiency are the same as other disorders, it is often misdiagnosed.

However, you should consider speaking to your child’s doctor about testing for 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
    • Crawl, sit, or stand without support
    • Walk
    • Babble or say words
    • 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

  • Epilepsy/seizure
  • Cerebral palsy
  • Mitochondrial disease
  • Neuromuscular weakness

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

Learn more about the symptoms of AADC deficiency that set it apart from other conditions.