This epilepsy syndrome is rare and may be difficult to diagnose. It is sometimes mistaken for a much more common type of epilepsy called childhood absence epilepsy.
In EMA, most children start having seizures around 2 or 3 years of age. However, because the absences last only one to 3 seconds (rarely up to 4) and may not be noticed by the family, it may not be diagnosed until much later.
The International League Against Epilepsy (ILAE) which decides on the classification of the different epilepsies and epilepsy syndromes has not completely accepted that EMA is a definite syndrome. However, most epilepsy specialists in the UK and in the world think it is a real epilepsy syndrome.
Other names for eyelid myoclonia with absences (EMA)
As the name suggests, the main seizure type is a very brief absence. This usually lasts just one to 3 seconds (rarely up to 4). At the same time as the absence, the eyelids or eyeballs may quickly roll or, more usually, jerk backwards and upwards so that the white part of the eyes is seen. This is the ‘eyelid myoclonia’ part of the seizure. The very quick upward jerk of the eyelids in this epilepsy syndrome is different to the eyelid flickering or fluttering that happens in many children with childhood or juvenile absence epilepsy or other epilepsy syndromes. Also, the absences and eyelid flickering in childhood absence epilepsy usually last for between 10 and 15 seconds. This is longer than in EMA.
Absences with EMA may only happen now and then in the first few weeks of a child’s epilepsy. However, very quickly, the absences increase in frequency to the point where they may happen 10, 20 or even 30 (or more) times every day. The absences are particularly likely to happen as the child closes their eyes.
Children with EMA are also photosensitive. This means that the seizures are triggered by flickering light. The seizures may even be triggered by simply going out of a dark room into sunlight. Some children with EMA will have to actively avoid bright lights as it can trigger absence seizures.
Rarely, children with this type of epilepsy may also have other types of seizure, including myoclonic and tonic-clonic seizures. These seizures usually only begin in later childhood or even adulthood and do not happen often.
No cause has been found to explain this epilepsy. It is possible that future research might show it to be a genetic type of epilepsy (inherited, in the genes). However, research could also show it not to be an epilepsy syndrome, but just part of another type of epilepsy.
A child’s development and learning is usually unaffected by EMA, even though the seizures happen many times a day.
The diagnosis is made by taking a very careful account of what happens during the seizures, and especially at what age the seizures start. Sometimes it can be very helpful to take a video recording of the seizures and show this to the doctor. However, this may be difficult because the seizures only last a few seconds. Sometimes the seizures are misdiagnosed as a mannerism or facial tic, particularly in young children. An EEG may also be helpful, particularly if the child has one of their seizures while the EEG is being done. The EEG should also show the photosensitivity that happens in this type of epilepsy.
The epilepsy medicines sodium valproate (Epilim), lamotrigine (Lamictal) and ethosuximide (Zarontin) may help to control most of the seizures. Sometimes a combination of two of these medicines may be more effective than a single medicine. Other medicines such as levetiracetam (Keppra) and clobazam (Frisium) may also be helpful. It is also important to know that some other epilepsy medicines will make EMA worse and should not be used. The medicines that should not be used are carbamazepine (Tegretol), phenytoin (Epanutin) and vigabatrin (Sabril).
Information about treatments for children can be found on the Medicines for Children website.
There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.
Most, but not all, of the seizures in EMA will be controlled with treatment. This means it is very unlikely that anyone with EMA will be seizure-free for one year. It is also likely that the epilepsy will continue throughout childhood and into adult life. Fortunately, most children with this type of epilepsy will have no learning disability or behaviour problems.
What is a syndrome?
A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an EEG are also used to help identify epilepsy syndromes.
If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact the Epilepsy Action Helpline.
Epilepsy Action would like to thank Dr Richard Appleton, consultant paediatric neurologist and honorary professor in paediatric neurology at Alder Hey Children’s Hospital, Liverpool, UK for preparing this information.