Myoclonic astatic epilepsy

Myoclonic astatic epilepsy

Myoclonic astatic epilepsy, also known as Doose syndrome, is a generalized idiopathic epilepsy. Generalized means that it affects both hemispheres of the brain. Idiopathic means the reason for the seizures is unknown and is most likely hereditary. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures.


Types of seizures experienced

Tonic–clonic A seizure often referred to as grand mal seizures. These seizures begin with stiffening of the extremities followed by jerking of the extremities and face.

Myoclonic A seizure with rapid, brief contractions of muscles, usually occurring at the same time on both sides of the body.

Myoclonic cluster Same as an individual Myoclonic seizure but happens repetitively fairly close together.

Atonic A seizure with a sudden loss of muscle tone, often resulting in a sudden collapse. These seizures are also known as drop seizures.

Absence A seizure with a brief lapse of awareness and or staring spell.

Myoclonic astatic A seizure that involves a myoclonic seizure followed immediately by an atonic seizure. This type of seizure is exclusive to MAE and is one of the defining characteristics of this syndrome.

Tonic Muscle stiffening or rigidity. This seizure is rare in this syndrome.

Initial onset

The onset of seizures is between the ages of 2 and 5. EEG shows regular and irregular bilaterally synchronous 2- to 3-Hz spike-waves and polyspike patterns with a 4- to 7-Hz background. 84% of affected children show normal development prior to seizures; the remainder show moderate psychomotor retardation mainly affecting speech. Boys (74%) are more often affected than girls (Doose and Baier 1987a).[2]


Epilepsy with myoclonic-astatic seizures has a variable course and outcome. Spontaneous remission with normal development has been observed in a few untreated cases. Complete seizure control can be achieved in about half of the cases with antiepileptic drug treatment (Doose and Baier 1987b; Dulac et al 1990). In the remainder of cases, the level of intelligence deteriorates and the children become severely retarded. Other neurologic abnormalities such as ataxia, poor motor function, dysarthria, and poor language development may emerge (Doose 1992b). However, this proportion may not be representative because in this series the data were collected in an institution for children with severe epilepsy.

The outcome is unfavorable if generalized tonic-clonic, tonic, or clonic seizures appear at the onset or occur frequently during the course. Generalized tonic-clonic seizures usually occur during the daytime in this disorder, at least in the early stages. Nocturnal generalized tonic-clonic seizures, which may develop later, are another unfavorable sign. If tonic seizures appear, prognosis is poor.

Status epilepticus with myoclonic, astatic, myoclonic-astatic, or absence seizures is another ominous sign, especially when prolonged or appearing early.

Failure to suppress the EEG abnormalities (4- to 7-Hz rhythms and spike-wave discharges) during therapy and absence of occipital alpha-rhythm with therapy also suggest a poor prognosis (Doose 1992a).[3]


Myoclonic-Astatic Epilepsy (MAE) was first described and identified in the late 1960s by Herman Doose as an epilepsy syndrome, hence its original label, Doose Syndrome.[4]


The treatment for seizures include medication, diet, and the vagus nerve stimulator.


The following drugs are currently approved and marketed for certain kinds of epilepsy in certain countries.[5]








Depakote ER®












Keppra XR™


















Tegretol XR®





Valproic Acid





Generally after three medications are tried, different treatment should be considered. It should also be noted that some medications are harmful to those with this syndrome and can increase seizures.


Ketogenic Diet

Normally, our bodies run on energy from glucose, which we get from food. We can't store large amounts of glucose, however. We only have about a 24-hour supply. When a child has no food for 24 hours—which is the way the diet begins, usually in a hospital—he or she uses up all the stored glucose. With no more glucose to provide energy, the child's body begins to burn stored fat.

The ketogenic diet keeps this process going. It forces the child's body to burn fat round the clock by keeping calories low and making fat products the primary food that the child is getting. In fact, the diet gets most (80 percent) of its calories from fat. The rest comes from carbohydrates and protein. Each meal has about four times as much fat as protein or carbohydrate. The amounts of food and liquid at each meal have to be carefully worked out and weighed for each person.

Doctors don't know precisely why a diet that mimics starvation by burning fat for energy should prevent seizures, although this is being studied. Nor do they know why the same diet works for some children and not for others.

Trying to put a child on the diet without medical guidance puts a child at risk of serious consequences. Every step of the ketogenic diet process must be managed by an experienced treatment team, usually based at a specialized medical center.[6]

Modified Atkins

A modified version of a popular low-carbohydrate, high-fat diet is nearly as effective at controlling seizures as the highly restrictive ketogenic diet, Johns Hopkins Children’s Center researchers report.

“Our findings suggest relatively good efficacy compared to the ketogenic diet,” said Eric Kossoff, M.D., a pediatric neurologist at Johns Hopkins Children’s Center. “With 20 patients, our study wasn’t large enough to say patients and physicians should replace the proven, but highly restricted ketogenic diet, but the results are encouraging and intriguing.”

The common elements in both the ketogenic and Atkins diets are relatively high fat and low carbohydrate foods that alter the body’s chemistry. The ketogenic diet mimics some of the effects of starvation, in which the body first uses up glucose and glycogen before burning stored body fat. In the absence of glucose, the body produces ketones, a chemical by-product of fat that can inhibit seizures. Children who remain seizure-free for two years on the ketogenic diet often can resume normal eating without the return of seizures.

The modified Atkins diet is better tolerated by children and may be easier for parents and children to follow, said Kossoff, who presented the study’s findings today in Washington, D.C. at a meeting of the American Epilepsy Society.[7]

Low-glycemic index diet

The low glycemic index treatment (LGIT) is a new dietary therapy currently being studied to treat epilepsy. LGIT attempts to reproduce the positive effects of the ketogenic diet. The treatment allows a more generous intake of carbohydrates than the ketogenic diet, but is restricted to foods that have a low glycemic index, meaning foods that have a relatively low impact on blood-glucose levels. These foods include meats, cheeses, and most vegetables because these foods have a relatively low glycemic index. Foods do not have to be weighed, but instead careful attention must be paid to portion size and balancing the intake of carbohydrates throughout the day with adequate amounts of fats and proteins.[8]

Vagus Nerve Stimulator

Similar to a pacemaker, a vagus nerve stimulator (VNS) is a small device implanted under the skin near your collarbone. A wire (lead) under the skin connects the device to the vagus nerve in your neck. The doctor programs the device to produce weak electrical signals that travel along the vagus nerve to your brain at regular intervals. These signals help prevent the electrical bursts in the brain that cause seizures.

After it is implanted in your body, the battery-powered device can be programmed from outside your body by your doctor. You can also use a handheld magnet to turn the device on if you feel a seizure about to start. And turn it off if it is causing unpleasant side effects.

It takes about 2 hours to surgically implant the VNS device in the chest.

The vagus nerve stimulator can start working right after the surgery (as soon as the doctor programs it). You may notice a slight bulge in the area under your collarbone where the device is. And the surgery will leave small scars on the side of your neck where the wire lead was placed and on your chest where the device was implanted.[9]

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