What Is Doose Syndrome or Myoclonic Atonic Epilepsy (MAE)?

Doose syndrome is a rare form of epilepsy. It is also called myoclonic atonic epilepsy (MAE). MAE most often affects children under 10 years old.1,2

There is no known cause for MAE, but it is believed to be due to a genetic defect. Seizures are usually generalized tonic-clonic, but can include absence and myoclonic seizures. Treatment usually includes drugs to control seizures and dietary changes.1,2

What causes Doose sydrome/MAE?

MAE is most likely caused by a genetic defect. It is believed to be due to a problem with the genes that control how the brain works.1,2

Who gets it?

MAE usually appears in the first 5 years of a child’s life. It impacts about 1 to 2 out of 100 children with epilepsy. This means that MAE impacts about 1 in every 100,000 children born each year.2

Boys are much more likely than girls to have MAE. Up to 3 out of 4 children with MAE are boys.1,2

About 1 in 3 children with MAE have a family history of a seizure disorder.

Symptoms of Doose sydrome/MAE

Nearly all children with MAE have their first seizure before the age of 5. More than half will have a generalized tonic-clonic seizure. Tonic-clonic seizures, once called grand mal, are the type people usually think of when they hear the word "seizure." These seizures can happen with or without fever and usually include:1,2

  • Muscle stiffening
  • Rhythmic jerking
  • Loss of consciousness

Some children may have an absence seizure as their first. They may lose consciousness for a few seconds, then stop and stare absently for 5 seconds or longer.1

Days to weeks after the first seizure, the child will start to have frequent myoclonic jerks or myoclonic-atonic ("drop") seizures. "Myoclonic" means sudden convulsion and rapid muscle movement. The atonic phase results in a rapid loss of muscle tone. The child quickly falls to the ground.1

Myoclonic-atonic seizures are very rare and are key to diagnosing MAE.1

Other symptoms may occur with MAE, including:2

  • Unsteady walking (ataxia)
  • Mild to severe learning and behavior problems
  • Attention problems, including attention deficit hyperactivity disorder (ADHD)

Most children with MAE have normal development until their diagnosis. Frequent seizures often lead to delays in development. Once the seizures are well controlled, development tends to resume as expected.1,2

Diagnosing Doose sydrome/MAE

Doctors use a physical exam along with a brain and nerve (neurological) exam to diagnose MAE.1,2

An electroencephalogram (EEG) helps your doctor learn more about your child’s epilepsy. An EEG is a painless test. It can be done:3,4

  • In a hospital
  • At home
  • In a doctor's office

EEGs measure electrical activity (brainwaves). Even when children with MAE are not having a seizure, their brainwaves may display unusual patterns.3,4

The doctor will probably order other tests to help diagnose MAE. Common examples are magnetic resonance imaging (MRI) and blood work.1,2

Treating myoclonic atonic epilepsy

MAE often does not respond well to many therapies and requires a team of experts to find the best option for each person. Treatment options include anti-seizure drugs and changes in diet.1,2

Anti-seizure drugs

The first-line therapy for epilepsy is prescription anti-seizure drugs. There are many different choices. Each drug has benefits and side effects. Your child's doctor will know which are best for your child.1,2

Rescue drugs may be needed if your child has prolonged or rapid seizures without recovery. This is known as status epilepticus and is an emergency. While not common in those with MAE, status epilepticus can happen. Your child’s doctor will talk to you about how to prepare for that possibility and about first aid options.1,2

Dietary changes

A ketogenic (keto) diet can help to decrease seizure activity in some people with MAE. The keto diet is a high-fat, low-carbohydrate diet that forces the body to burn fat rather than carbohydrates (glucose). It is a rigorous diet that requires strict adherence and dedication.1,2

The keto diet has known and unknown side effects. Those who follow it should be closely monitored by their doctors. The effectiveness of the ketogenic diet varies from person to person. Doctors are still uncertain about why the diet is effective in treating seizures and why it works for some but not others.1,2

As your child grows older, their seizures will most likely change. The treatment that works now might not work in the future. However, many children outgrow their seizures. While there is no cure, anti-seizure drugs and diet offer hope for those with MAE.1,2

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Written by: Katie Murphy | Last reviewed: March 2022