Myoclonic astatic epilepsy

4th January 2020

Myoclonic astatic epilepsy is an extremely uncommon epilepsy syndrome that affects only 2 out of every 100 children with epilepsy. It more commonly affects males and symptoms can become clear between the ages of 18 months and 5 years.

This syndrome has no known cause, but is widely believed to be as a result of a genetic abnormality, although there is no evidence of this. The reason for this thought is that in a third of cases there will also be a family member who has some form of epilepsy.  

This syndrome is also commonly referred to as Doose syndrome or in some cases ‘astatic’ can be replaced with ‘atonic’, both of which are indicative of the person falling to the ground during a seizure. 

Symptoms 

In terms of seizures, there can be a real mix that includes myoclonic, atonic (or astatic), absence and generalised tonic-clonic. This means that it can be difficult to know which type of seizure will occur in a child with myoclonic astatic epilepsy. In addition, almost a third of children with myoclonic astatic epilepsy will experience a prolonged seizure (status epilepticus) at some point during childhood or adolescence. 

Click here to read more about the different types of seizures and how they affect those who have them.

Diagnosis

An electroencephalogram (EEG) will be used to make a diagnosis of myoclonic astatic epilepsy. The test will look for ‘spike and wave’ activity which is most commonly seen whilst the child is asleep, which may mean that they need to have an overnight stay to monitor their brain activity. 

In addition, brain scans, blood tests and magnetic resonance imaging (MRI) scans may be used to further confirm the dignosis. 

Treatment 

Unfortunately, treatment for myoclonic-astatic syndrome can prove to be difficult. Anti-epileptic medications (AEDs) will be the first option, with sodium valproate, topiramate and lamotrigine being the most common that have proved to be effective. Occasionally clobazam, ethosuximide and nitrazepam may also be effective treatment options. 

The ketogenic diet is one treatment option that has a good record of responding well with this particular syndrome. Read more about the ketogenic diet here in one of our earlier blog posts. 

Prognosis

The outlook for a child who has myoclonic-astatic epilepsy varies between cases. Around half of the children who have this syndrome will respond well to AEds and other treatments, although there is an increased chance of learning difficulties. In many cases, it is so difficult to optimise treatment, which means that seizures will continue to increase in severity, which can lead to moderate to severe learning difficulties. In general, the prognosis is more unfortunate if the child develops generalised tonic-clonic seizures. 

National Epilepsy Training can help

For more information and guidance on myoclonic-astatic epilepsy, please call us on 01706 373075 or email admin@nationalepilepsytraining.co.uk