Overview of Myoclonic Astatic Epilepsy, Also Known as Doose Syndrome

Doose syndrome is a rare childhood epilepsy syndrome first described in 1970 by Dr. Herman Doose. It has no known cause or cure.

Doose syndrome usually begins between the ages of 1 and 5 years. It develops in children assigned male at birth about twice as often as in children assigned female at birth. About 94% of children have their first seizure before the age of 5.

Doose syndrome makes up about 1% to 2% of childhood epilepsy syndromes. This works out to be fewer than 1 per 100,000 children born each year.

It’s unknown what causes Doose syndrome, but genetics are thought to play a role. About 34% to 44% of children with Doose syndrome have a family member with a history of epilepsy.

Single gene mutations are found in about 14% of people. Children with these gene mutations often have more severe symptoms or are more likely to have developmental delays. These genes include:

• SLC2A1
• SCN1A
• SCN1B
• SCN2A
• GABRG2
• CHD2
• SYNGAP1
• NEXMIF
• AP2M1
• KIAA2022

Myoclonic astatic epilepsy falls within a range known as the genetic epilepsy with febrile seizures plus (GEFS+) spectrum. This is a spectrum of seizure disorders of varying severity.

People with Doose syndrome can experience different types of seizures. They include:

• Generalized tonic clonic seizures: These seizures (which used to be called grand mal seizures) are the first type of seizure most people with Doose syndrome have. It can cause loss of consciousness and convulsions.
• Drop seizures: Drop seizures, or atonic seizures, occur in everyone with Doose syndrome. They’re characterized by a sudden loss of muscle tone that can cause collapse.
• Absence seizures: About 22% of people with Doose syndrome have an absence seizure, or petit mal seizure, as their first seizure. They’re brief seizures that can appear as daydreaming or zoning out.
• Myoclonic seizures: Myoclonic seizures are characterized by brief muscle jerking or twitching that lasts a 1 to 2 seconds.
• Tonic seizures: Tonic seizures usually develop later and may be associated with a poorer outlook. They’re characterized by sudden muscle stiffness, usually while sleeping.

Doose syndrome can also cause other symptoms, such as:

• Ataxia: Ataxia occurs in up to 80% of people with Doose syndrome. It’s characterized by unsteady walking or movement coordination.
• Cognitive impairment: Cognitive impairment, which affects your ability to think or understand, can range from no impairment at all to severe impairment.
• Attention deficit hyperactivity disorder (ADHD): ADHD is reported in 15% to 20% of people with Doose syndrome.
• Behavior disturbance: Anecdotal evidence suggests behavioral disturbance increases with changes in medication dosage.

A family history of seizures seems to be the biggest risk factor for developing Doose syndrome.

Most people achieve seizure remission either through medication or dietary changes. For the 20% to 40% who don’t, there’s a risk of developing difficult-to-control seizures or intellectual disability.

Doose syndrome is diagnosed based on the type of seizures your child is experiencing and the description of their symptoms.

Doctors may also use an EEG to measure their brain activity and an MRI to look for abnormal brain areas to confirm the diagnosis. Most people with the condition have an atypical EEG pattern.

The diagnostic manual of the International League Against Epilepsy (ILAE) includes the following criteria:

• typical development and cognitive function before the onset of epilepsy
• onset of epilepsy between 6 months and 6 years of age
• presence of myoclonic seizures
• presence of generalized spike-wave discharges at 2 to 3 hertz without persistent focal spike discharge
• no diagnosis of another epilepsy syndrome

Seizures are usually treated with antiseizure medications. The types of medications prescribed depend on the type of seizures your child is having.

For generalized tonic clonic, myoclonic, and myoclonic atonic seizures, doctors may prescribe:

• valproic acid and divalproex
• lamotrigine
• levetiracetam
• topiramate
• zonisamide
• rufinamide
• clobazam
• felbamate

Absence seizures are usually treated with:

• ethosuximide
• valproic acid and divalproex
• lamotrigine

The ketogenic diet is often considered a second-line or complementary therapy. Following this diet sometimes successfully treats difficult-to-treat cases. Learn more about the ketogenic diet.

It’s important to see have your child see a doctor if they have a seizure for the first time. A doctor can help diagnose epilepsy or rule out other conditions that can cause seizures, such as infections or head injuries. If your child already has an epilepsy diagnosis, it’s important to call a doctor if they develop any new symptoms.

Most seizures don’t require emergency medical attention. If you’re with somebody who is having a seizure, the CDC recommends:

• staying with them until they’re fully awake, and after, helping them sit somewhere safe
• comforting them and speaking calmly
• checking to see if they have a medical bracelet or other emergency information
• keeping yourself and other people around calm
• offering to help the person get home safely

When to call emergency medical services

The CDC recommends calling 911 (or local emergency services) if:

• a person has their first seizure
• they have trouble breathing or waking up
• the seizure lasts longer than 5 minutes
• the person is hurt
• the seizure happens in water
• they’re pregnant or have health conditions like diabetes or heart disease

About two out of three children with Doose syndrome outgrow their seizures. Cognitive development typically improves once seizures are under control.

Some children return to typical function while others may have some degree of intellectual disability.

Intellectual disability tends to be most severe in children with persistent seizures and those with tonic seizures or a type of prolonged seizure called nonconvulsive status epilepticus.

Classifying epilepsy into syndromes can provide doctors with a better understanding of how these conditions will progress, how they can best treated, and the outlook for people with the condition.

An epilepsy syndrome is a collection of features that often occur together. These features can include:

• seizure type
• age of onset
• known triggers
• genetic factors
• response to medications
• brain activity measured with an EEG
• cognitive delays or other associated symptoms
• outlook

The ILAE recognizes more than 40 types of epilepsy syndromes. Some of these include:

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a severe form of epilepsy that usually develops before the age of 4 years. It can be very difficult to treat (it includes treatment-resistant epilepsy) and causes multiple types of seizures and intellectual disability. Complete recovery is very rare.

Dravet syndrome

Dravet syndrome is a rare type of epilepsy that causes frequent seizures that don’t respond well to medications. It usually develops in the first year of life, and about 80% of children with this condition have a mutation in their SCN1A gene.

Childhood absence epilepsy

Childhood absence epilepsy is a syndrome that begins in young children and causes absence seizures. During these seizures, children stare blankly and stop responding for about 10 to 20 seconds.

Infantile spasms (West syndrome)

Infantile spasms are short and often subtle seizures that occur in infants. They can cause symptoms like:

• sudden stiffening
• uncontrolled movements such as head bobs
• arms flinging as they pull their knees up and bend at the waist
• throwing head back by legs stiffness

Gelastic seizures with hypothalamic hamartoma

Gelastic seizures with hypothalamic hamartoma is a syndrome where people develop gelastic seizures in the presence of a hypothalamic hamartoma. Gelastic seizures are seizures that cause uncontrolled laughing in the absence of joy. A hypothalamic hamartoma is a noncancerous tumor on a part of your brain called the hypothalamus.

Landau Kleffner syndrome

Landau Kleffner syndrome is a rare childhood epilepsy syndrome that can cause seizures and loss of language comprehension. It can often mimic deafness, since many children with this syndrome fail to respond to verbal language and some sounds.

Doose syndrome is a childhood epilepsy syndrome that can cause many types of seizures. About two-thirds of children outgrow their seizures, but the other third have persistent seizures.

Once seizures are under control, most children with this syndrome will have typical function, but some are left with some degree of intellectual disability.

It’s important to visit a doctor if your child has symptoms of epilepsy. Some types of seizures like absence seizures can be subtle and difficult to spot. Getting a proper diagnosis gives your child the best chance of getting their seizures under control and enjoying a high quality of life.