"Myoclonic Absence Epilepsies" is a term used to describe a group of epileptic disorders distinguished by both absence seizures and myoclonic seizures. The word "Myoclonic" denotes a type of seizure characterized by sudden, involuntary muscle contractions. The word "Absence" refers to seizures characterized by brief loss of consciousness. The phonetic transcription of this term is /maɪəˈklɑnɪk ˈæbsəns ˌɛpɪˈlɛpsiz/. This term is commonly abbreviated as "MAE" in medical literature.
Myoclonic Absence Epilepsies refer to a group of epileptic disorders characterized by the presence of both myoclonic seizures and absence seizures. Myoclonic seizures involve sudden, brief, and involuntary muscle jerks that can occur in various parts of the body. These jerks typically last for a fraction of a second and may be isolated or occur in clusters. Absence seizures, on the other hand, are brief episodes of impaired consciousness where individuals may exhibit staring spells or a loss of awareness for a short period, often accompanied by subtle movements such as blinking or lip smacking.
The combination of myoclonic and absence seizures is the hallmark of Myoclonic Absence Epilepsies. This term encompasses several specific subtypes, including Juvenile Myoclonic Epilepsy (JME) and Eyelid Myoclonia with Absences (EMAs). JME usually manifests during adolescence and presents with myoclonic jerks, absence seizures, and often generalized tonic-clonic seizures. EMAs, on the other hand, primarily affect children and are characterized by myoclonic jerks involving the eyelids or periorbital muscles, along with absence seizures.
The exact cause of Myoclonic Absence Epilepsies is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Diagnosis is typically made based on clinical manifestations, electroencephalogram (EEG) findings, and exclusion of other possible causes. Treatment usually involves the use of antiepileptic medications to control seizures, with different drug choices tailored to the specific subtype and individual patient. Prognosis for Myoclonic Absence Epilepsies can vary, with some patients achieving good seizure control