Problems of juvenile myoclonic epilepsy. A view through the prism of time

Abstract

The authors present a comparative analysis of the results of the study of 72 adolescent patients with juvenile myoclonic epilepsy (JME), which were published in 2010, and a new sample of patients over the last 5 years with the publications of domestic and foreign authors. Difficult clinical cases are described. These data indicate positive shifts in the diagnosis and treatment of JME. However, the question of diagnosis is still a hard problem for neurologists. The questions to be resolved are: gender aspect of the disease, to what extent levetiracetam could be a drug of first choice and to what extent valproats could be replaced; monitoring of children born to mothers with JME, a role of paternal inheritance.

Juvenile myoclonic epilepsy: current state of the problem

“…To solve this issue, an epidemiological study is necessary. At the same time, rare cases of late debut of JME were recorded already in the eighth decade of life [12,13,47].…”

“…JME is characterized by an age-dependent onset with upper limb jerks in adolescence, as well as GTCS in most cases. The most typical age of JME onset is between 12 and 18 years of life, but the symptoms of the disease can be observed in a wider age rangefrom 6 to 36 years [12,30].…”

“…Sometimes, before GTCS, a person may experience what is known as an aura, which serves as a warning sign of an impending epileptic attack, giving patients time to prepare. Not always aura lead to GTCS and may occurs independently [12].…”

“…About 26-28% of patients with JME are free from epileptic seizures on the background of regular use of AEDs for 20 years or more. However, up to 50% of patients with JME have at least one serious adverse social outcome, such as inability to finish high school, unplanned pregnancy, depression, unemployment or loneliness, low physical activity [12,54].…”

“…Juvenile myoclonic epilepsy (JME) has been the subject of intensive research for many years, since it is the most common archetypal syndrome of GGE [11] with a fairly homogeneous manifestation and a largely unknown etiology, and the elucidation of probably multiple genetic mechanisms of the pathogenesis of JME is a continuous scientific process [12,13]. JME cannot qualify as "benign" epilepsy, but in most patients, epileptic seizures can be treated adequately, while patients will not experience serious restrictions regarding their life expectations.…”