Eyelid Myoclonia with Absences (EMA) in Two Monovular Twins

Abstract

EMA (eyelid myoclonia with absences) consists of brief seizures triggered by eyelid closure and characterized by absence and palpebral myoclonia. The EEG shows brief discharges with 3 per second spike and wave complexes. The present report describes the cases of 2 monovular twins who started to have this form of epilepsy at the age of 4 1/2 years. Their seizures, after 2 years of follow-up, are greatly reduced with combined therapy of valproic acid and benzodiazepines (Clobazam).

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox

“…A family history of epilepsy with varying degrees of familiarity was present in 55% of these patients with pure EMA, which was similar to prior reports [8,17,20,[48][49][50]. Fifteen (50%) patients had mental problems ranging from learning difficulties and memory impairment to mental retardation, as shown previously in literature [3,6,16,33,51].…”

Eyelid myoclonia with absences in monozygotic twins

“…Additionally, there are two other main points of interest. The first is the complete homogeneity between the two cases, including the clinical symptoms, course, and prognosis (Table 1), in contrast to phenotypic variability (heterogeneity) previously described in familiar cases 4,7 . This report is the first of Japanese cases of EMA in monozygotic twins.…”

“…Reports describe some common clinical features that had been noted previously as well as uncommon characteristics including mental retardation 5 . The disorder has been documented in three pairs of twins 6 and a monozygotic twin with mental retardation 7 . The author of the latter report speculated that EMA was due to unknown congenital and genetic factors.…”

Eyelid myoclonia with typical absences: an epilepsy syndrome.

“…Multiple spikes and spike-slow wave complexes were seen on eye closure which --were associated with occasional, brief, upward movements of the eyelids and very brief absences (1-3 s) which attenuated on eye opening and also in darkness. Photic stimulation evoked numerous, generalised, high amplitude discharges of irregular polyspike and slow wave activity at a flash frequency of [8][9][10][11][12] Hz (fig 1). Carbamazepine had no effect on the seizures.…”