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THE CHALLENGE OF A CORRECT DIAGNOSIS

Although symptoms are often seen when the person is still an infant, an accurate diagnosis may take a long time. AADC deficiency is rare, and many of its symptoms may overlap with those of other disorders, so there may be a delay in diagnosis.

Symptoms of AADC deficiency may look like other conditions:

Symptoms of AADC deficiency Other conditions
Oculogyric crises Epilepsy
Oculogyric crises
Rigidity (stiffness)
Juvenile parkinsonism
Involuntary muscle contractions
Rigidity
Delays in development
Cerebral palsy
Delays in development Behavioral disorders/autism
Low muscle tone
Delays in development
Mitochondrial disease
Low muscle tone
Involuntary muscle contractions
Motor delays
Neuromuscular disorders
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When AADC deficiency is not diagnosed right away or is never correctly diagnosed, treatment and proper management of this condition are delayed.

“Knowing what the diagnosis is and knowing what the prognosis is can help get the family prepared.”
Warren A. Marks, MD

Other signs and symptoms to help identify AADC deficiency

eye

Involuntary eye movements called oculogyric crises

During these episodes, a child’s eyes will suddenly roll upward, without control; they can last anywhere from a few seconds to hours and can happen several times a day or several times a week. When these episodes occur, it can look as though the child is having a seizure

brain

Normal brain scans

Including normal CT, MRI, and EEG

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Multiple symptoms associated with bodily functions (autonomic symptoms)

Such as the body being unable to control its temperature (temperature instability), excessive sweating, a stuffy or runny nose, and changes in blood pressure

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Symptoms may become worse or more noticeable

Later in the day and improve with sleep

If your child is showing 1 or a combination of these signs and symptoms, you may want to talk to your child’s doctor about screening for AADC deficiency.

CT=computed tomography; EEG=electroencephalogram; MRI=magnetic resonance imaging.

“Daria had these attacks, or oculogyric spasms, which [we now know] are a characteristic of AADC deficiency—it put her in a completely different state.”
Viktoria Shamrin, mother and caregiver of Daria
Viktoria Shamrin

What are oculogyric crises?

An expert discusses what oculogyric crises 
look like.

If these symptoms sound familiar, you may want to discuss them with your child’s doctor. Fill out this questionnaire to help you have that discussion.
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