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Cerebral palsy and AADC deficiency

  • Cerebral palsy and AADC deficiency have a number of overlapping signs and symptoms, meaning it can be difficult to tell them apart
  • On this page you will learn more about cerebral palsy including how it is similar to AADC deficiency and how it is different

What is cerebral palsy?

  • Cerebral palsy is not a single condition, but is instead used to describe a group of disorders that can affect a person’s ability to move and balance properly
  • It is the most common motor disability in childhood
  • While the specific cause of cerebral palsy is normally not known for most children, it is usually caused by damage to the brain before or during birth (also known as congenital cerebral palsy) or more than 28 days after birth (known as acquired cerebral palsy)
  • Most children with cerebral palsy have what is known as ‘spastic cerebral palsy’, which means that their muscles are very stiff, making moving difficult
  • Cerebral palsy symptoms can range from mild to severe and are different in each person affected
  • For every 1,000 children born alive, about 1.5 to 2.5 will have cerebral palsy, with the risk highest among very preterm and low-birthweight babies

What are the signs and symptoms of cerebral palsy?

  • Throughout the first 2 years of a child’s life, they should reach key developmental milestones such as sitting without support, crawling or walking
  • While children progress at different rates, a delay in reaching milestones is the most common sign that a child may have a condition like cerebral palsy 

  • Children with cerebral palsy may also have some of these other signs:
    • They feel floppy (also known as having low muscle tone or hypotonia)
    • They feel stiff
    • They have involuntary muscle contractions that cause slow repetitive movements or abnormal postures (also known as dystonia)
    • They have involuntary, irregular, unpredictable muscle movements that make them look restless or fidgety

How are cerebral palsy and AADC deficiency similar and how are they different?

  • Some of the signs and symptoms of cerebral palsy may also appear in other conditions including:
  • Many of the childhood signs and symptoms of cerebral palsy are similar to those seen in children with AADC deficiency
  • While cerebral palsy and AADC deficiency can have different signs and symptoms, some of the similarities and differences between these conditions are shown below. Click the icons for more information:
Cerebral palsy
CP - Dystonia
Developmental delay
CP - Developmental delay
CP - Hypotonia
CP - Seizure
Oculogyric crisis
CP - Oculogyric crisis
Multiple autonomic dysfunction​
CP - Multiple autonomic dysfunction
Diurnal variation
CP - Diurnal variation
  • The overlap in signs and symptoms between these conditions means that some individuals may be diagnosed with both cerebral palsy and AADC deficiency

  • When there is a delay to a diagnosis of AADC deficiency, or it is incorrectly diagnosed, treatment and appropriate management of this condition are delayed
  • If your child is displaying any of the symptoms listed of AADC deficiency or neuromuscular disorders, talk to your child’s doctor

GL-AADC-0979 | February 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.