Myoclonic Atonic Epilepsy. Doose Syndrome. Myoclonic Astatic epilepsy. MAE.
Incidence
It is a epilepsy syndrome that accounts for 1 to 2 out of 100 (1 to 2%) of all childhood-onset epilepsies. Boys tend to be affected more than girls (two thirds to three quarters of children with MAE will be boys). About 1 out of 3 families have a history of seizures. This epilepsy syndrome is considered part of a group of genetic epilepsies with febrile seizures plus (GEFS+).
Clinical Characteristics
Myoclonic atonic epilepsy (MAE), typically known as Doose syndrome, was first described by Dr. Herman Doose from Germany in 1970. It is an uncommon childhood epilepsy syndrome that accounts for 1 to 2 out of 100 (1 to 2%) of all childhood-onset epilepsies. Usually the first seizure occurs between 2 and 6 years of age. Boys tend to be affected more than girls (two thirds to three quarters of children with MAE will be boys).
More than half of children start with a generalized tonic-clonic seizure with or without fever. Within days to months, drop seizures begin. Many children also develop myoclonic jerks and absence seizures, and some may develop tonic seizures. Most children with MAE are developing normally when seizures begin.
Children with MAE may have multiple seizure types: Drop seizures, characterized by an abrupt fall with loss of body tone (atonic) or by a brief body jerk followed by an abrupt fall (myoclonic atonic), occur in everyone. Absence seizures and myoclonic seizures are seen in many cases. Tonic seizures can be seen later in the course and often are predictive of poorer outcomes. Though all seizure types can result in status epilepticus, about 1 in 3 children with MAE have episodes of non-convulsive status epilepticus. Seizures tend to occur more often early in the morning than during the day.
Precipitants
Sleep deprivation is a common trigger of seizures.
Provocation Tests
None.
Diagnostic Procedures
MAE is diagnosed based on the description of the seizures, with myoclonic atonic seizures being the most common type. Information also comes from tests such as: EEG (electroencephalogram): children with MAE may have normal EEGs at first, but most have abnormal EEGs showing frequent generalized spike-wave activity in brief bursts of 2 to 5 Hz. Background may be normal or abnormal.