Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequa...Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequate therapy plan and worsening of symptoms. Timely diagnosis of JME is crucial for the correct management of symptoms and prevention of disease development. In this case report we describe a case of a 33-year-old woman who did not receive appropriate care due to a late diagnosis of her JME condition.展开更多
Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This arti...Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.展开更多
文摘Juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequate therapy plan and worsening of symptoms. Timely diagnosis of JME is crucial for the correct management of symptoms and prevention of disease development. In this case report we describe a case of a 33-year-old woman who did not receive appropriate care due to a late diagnosis of her JME condition.
文摘Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.
