In 2003, 8-year-old Samantha (Sam) Short was diagnosed with epilepsy. At first, her family thought that Sam’s epilepsy consisted mostly of absence seizures. No medication seemed to work, however, and the Shorts spent the next five years visiting neurologists near their Florida (USA) home.
“We were on what I call the merry-go-round of medications just trying to find what worked,” said Sam’s mother, Tracey Short. “And we were getting very frustrated.”
In 2019, the Mugar family started a similar search for answers in a different region of the United States when they noticed their 2-year-old daughter’s eyes making unusual rolling movements.
“I sought out multiple doctors across the world and reached out via blind email,” said Jonathan Mugar. “I sent them her EEG reading and wrote to them about how she was presenting just to get various opinions.”
Despite being separated by time and space, both Sam Short and Mugar’s daughter eventually were given the same diagnosis: epilepsy with eyelid myoclonia, or EEM.
EEM is a generalized epilepsy syndrome characterized by a triad of clinical features: eye closure-induced seizures or changes on the EEG, eyelid myoclonia with or without absence seizures, and photosensitivity. It appears predominantly in females and is often a life-long condition that starts between the ages of 3 and 12.
Less than 50% of people with EEM have a family history of epilepsy. A 2021 study found that about one-third of children with EEM had first- or second-degree relatives with epilepsy, with about 30% of those relatives also having EEM. The same study found that only about 35% of children with EEM have an intellectual disability, and most disabilities are not severe.
Previously known as Jeavons syndrome, EEM is reported to make up only 1.2% to 2.7% of epilepsy cases. Its rarity makes prospective studies difficult to perform and may be why many neurologists are unfamiliar with the condition. Yet, Philippe Gélisse, an epileptologist at the Gui de Chauliac Hospital in Montpellier, France, and the senior author of the 2021 study, believes that EEM is more common than many realize.
“This epilepsy is underdiagnosed,” he said. “[It] is considered rare, but eyelid myoclonia is sometimes not recognized by clinicians or [EEG technicians].”
Consensus on diagnosis
Two papers outlining consensus guidelines on the clinical presentation and evaluation of EEM, as well as managing it, were recently published in Epilepsia. The international expert panel, convened by CURE Epilepsy, included not only neurologists, but also people with EEM and caregivers—including Mugar, who was an author on both studies.
“One of the goals of the project was to try and see what experts around the world are doing to both diagnose and manage the syndrome,” said Kelsey Smith, an adult epileptologist at the Mayo Clinic and the senior author of the publications. “[And] see if there are differences and if there are questions that we still need to try and answer with future research projects.”
Ninety-six percent of the international panel agreed that eyelid myoclonia with or without absence seizures is mandatory for an EEM diagnosis. Eye closure-induced seizures or photosensitivity provide additional support for the diagnosis.
The panel also agreed that the clinical features of EEM can extend beyond the established triad: 96% said that generalized tonic-clonic (GTC) seizures or absence seizures without eyelid myoclonia also could be present.
Sam has GTC seizures, with frequent eyelid myoclonia serving as a warning.
“If she missed her medication or she did not get a good night's sleep, the eye fluttering will happen more and more,” said Tracey. “And that will [lead to] a [GTC] seizure.”
Diagnoses and Delays
The guidelines recommend using an EEG as part of an EEM diagnosis. Gélisse, the senior author of the 2021 study, specifically recommends using an ambulatory EEG based on his experience treating the condition.
“Eyelid myoclonia on EEGs is sometimes misinterpreted as muscle artifacts,” he said. “It is difficult to see with a standard EEG.”
Nearly all of the neurologists on the panel agreed that eyelid myoclonia could be present for years before it is recognized as seizures. This leads to delays in diagnosis, sometimes for as long as a decade, according to a 2018 study.
In Sam’s case, her occupational therapist noticed Sam’s eyelid myoclonia when she was 5, but Sam was not diagnosed with epilepsy until three years later, when she experienced her first GTC seizure.
“Nobody could see [the eyelid myoclonia],” said Tracey. “It is the [GTC seizures] that get all the attention.”
A lack of awareness may also result in misdiagnosis of other forms of epilepsy. A 2022 study found that 77% of people with EEM were initially diagnosed with childhood absence epilepsy (CAE) or juvenile myoclonic epilepsy (JME). Although the consensus panel agreed that JME and EEM have similar clinical features, most said that a misdiagnosis of CAE was more common.
Mugar’s daughter was initially diagnosed with CAE, but after starting his research he began to question the diagnosis.
“That period of time was tough to deal with,” he said. “I think until you really understand what it is, and you can call it for what it is, it is a very difficult and uncertain territory to be in.”
Life with EEM: Different for everyone
Because the severity of EEM is so variable, the physicians reached only a moderate consensus as to how EEM affects the quality of a person’s life.
One of Gélisse’s EEM patients was able to move from France to the United States toward a goal of becoming a professional soccer player. But Sam’s EEM has made learning and socializing difficult.
“I struggle to read and do math,” said Sam, now 29. “And it is hard to socialize with other people that are not on my level.”
EEM also prevents Sam from driving. Although the neurologists on the panel suggested using EEG readings to make recommendations for driving, there was no consensus on whether people with EEM should drive.
Smith sees driving restrictions as an important topic of further research.
“Driving is really important to a lot of people's quality of life,” she said. “It is an area where we need to have the best answers possible, and we want the roadway to be safe both for our patients and for everyone else.”
Treatment Options
Eyelid myoclonia is often resistant to medication. The guideline consensus panel agreed that uncontrolled eyelid myoclonia can be acceptable, as long as the other seizures are controlled and the child is not losing awareness.
“I think that is something that is very individual and that you would have to talk to these patients about how much the eyelid myoclonia is impacting their lives,” said Smith. “And there's always the tradeoff of side effects of anti-seizure medications.”
The guidelines pointed to valproic acid as the medication of choice for treating EEM, with a strong consensus that levetiracetam and lamotrigine are also effective and the drugs of choice for females of childbearing age. Additionally, 88% of the physicians agreed that, aside from lamotrigine, sodium channel blockers should be avoided, because they can worsen symptoms.
The panel could not reach a consensus on whether other types of medication, surgical procedures, or non-pharmacologic therapies reduced EEM symptoms. One of these therapies is the ketogenic diet, a high-fat and low-carbohydrate diet that can reduce seizure frequency in some cases of epilepsy. Eyeglasses with special lenses also may benefit people whose seizures are triggered by photosensitivity.
Smith said there is sparse data on the effects of these treatments. “A lot of the physicians or caregivers had tried either dietary therapy or the lenses,” she said. “But [there was] just less experience of the outcome from those.”
Hope for the future
Treatment has significantly reduced Sam’s eyelid myoclonia and the risk of GTC seizures. She also has found ways of working around her epilepsy. Sam now owns a dog walking business and lives with her own dog in a disability community a few minutes away from her parents.
“I am surviving,” said Sam. “It is hard, but you have to go through bad days and good days.”
Treatment has also shortened the length of Mugar’s daughter’s seizures. Now 7 years old, she enjoys arts and crafts and dreams of becoming a firefighter.
Gélisse said while the consensus guidelines will add to the current understanding of EEM, more research needs to be done on the genetics of the condition, and more research is needed on anti-seizure medications for EEM, both individually and in combinations.
Regardless of what comes next in EEM research, both the Shorts and the Mugars are glad that neurologists are paying attention to the condition.
“It is massively helpful from a caregiver's perspective to have people out there talking about [EEM] and gathering all of this information,” said Mugar. “[The papers] are a fantastic start.”
Resources
Clinical presentation and evaluation of epilepsy with eyelid myoclonia (Epilepsia)
Management of epilepsy with eyelid myoclonia (Epilepsia)
Samantha Short: Eyelid myoclonia in action (YouTube)
Epilepsy with Eyelid Myoclonia (EEM) / Jeavons Syndrome Initiative (CURE Epilepsy)
##
Founded in 1909, the International League Against Epilepsy (ILAE) is a global organization with more than 125 national chapters.
Through promoting research, education and training to improve the diagnosis, treatment and prevention of the disease, ILAE is working toward a world where no person’s life is limited by epilepsy.
Website | Facebook | Instagram
X (Twitter): English French Japa
RSS