Epilepsy and AADC deficiency

Epilepsy 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 epilepsy including how it is similar to AADC deficiency and how it is different

What is epilepsy?

Epilepsy is a disorder of the brain
It describes abnormal electrical activity in the brain which causes seizures or periods of unusual behaviour
Some seizures may look like a person is confused or looking into the distance, others may cause a person to fall, shake or lose consciousness
It is thought that there are about 130,000 new cases of epilepsy each year in children and adolescents in Europe

What are the signs and symptoms of epilepsy?

Epilepsy affects people in different ways and there are many types of seizures, which can make it hard to know if someone is having a seizure
Epileptic seizures can be classified into three categories:

1. Generalized seizures, which affect both sides of the brain and may lead to someone staring into space, falling to the ground or losing consciousness

2. Focal seizures (also known as partial seizures), affect just one area of the brain. These may result in someone experiencing a change in sensation (such as a strange taste of smell) or being confused or unresponsive

3. Epileptic spasms are characterised by sudden convulsions of the arms and legs that are held for several seconds and then reoccur in clusters

How are epilepsy and AADC deficiency similar and how are they different?

Some of the signs and symptoms of epilepsy may also appear in other conditions including:
Some of the signs and symptoms of AADC deficiency look like epilepsy, such as oculogyric crises (sudden episodes of involuntary and irregular eye movements), dystonia (involuntary muscle contractions that cause slow repetitive movements or abnormal postures) or generalised tonic seizures (a seizure characterised by both stiffness and jerking motions)
However, epileptic seizures are uncommon in patients with AADC deficiency, although a few cases have been reported
Some of the similarities and differences between the signs and symptoms of epileptic seizures and AADC deficiency are shown below. Click the icons for more information:

The similarities in the signs and symptoms between epileptic seizures and AADC deficiency means it can sometimes be difficult to identify individuals with 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