Myoclonic-astatic epilepsy, also known as Doose syndrome, is a type of idiopathic childhood epilepsy presenting with astatic as well as myoclonic component. It presents in children with previously normal development but can cause some degree of mental disturbance later in life.
Myoclonic-astatic epilepsy (MAE) consists of both myoclonic and astatic components. This disease can be accompanied by other types of seizures, such as absence, complex partial and generalized tonic-clonic or be atypical in presentation . On more rare occasions, a diagnosed syndromic epilepsy can precede another kind as in the example provided by Auvin et al., who described a case of a young male suffering from myoclonic-astatic epilepsy successive of myoclonic epilepsy. Auvin et al. also described an MAE presenting before juvenile myoclonic epilepsy . Episodes of seizures in MAE are documented to be triggered by physical stimuli, including tactile or acoustic provocation in early presentation .
Myoclonic seizures are characterized by brief jolting motions in muscles of axial skeleton and extremities. Likewise, more indistinct seizures appear as small twitches or incoherent sounds. If extremity muscles are affected, the person falls as if thrown on the ground but most commonly afflicted person regains equilibrium and avoids serious injury .
Astatic seizures, on the other hand, are manifested by a short loss of tone e.g. may cause the person to appear nodding. This type of seizure typically supersedes a myoclonic one. Late manifestations in addition to previously described include tonic vibrations as well as axial tonic seizures. In negative dynamics of the disease, seizures become more frequent and exhibit in the mornings amid sleep. Moreover, a risk of status epilepticus, absence seizure is possible subsequent to MAE episodes .
Mental development in affected children ranges from normal to profound mental retardation  . Some behavioral issues bear similarity to autism spectrum disorders presenting as defective social interaction skills, lack of sympathy, tendency to be uncompromising and have a short extent of interests. Children with MAE also exhibit problems with depression, attention span, and aggressive behavior, although the latter is thought to be found less often .
Myoclonic-astatic epilepsy (MAE) can be diagnosed by findings on electroencephalogram (EEG). In early stages of the disease EEG can appear normal but after advancement of MAE, some findings may be exhibited. These results include short flares of spikes or waves in 2-5 Hz frequency which are combined with polyspikes and wave complexes. Interestingly, a study proposed that the second component of the spike-wave tends to be more positive, correlating to the severity of the seizure . Furthermore, data of spike-wave complexes ranging in frequency 4-7 Hz tend to accompany photosensitivity. Parietal theta and background slowing are also present in EEG. A conglomeration of spike-waves and background slowing can exist after seizure episodes and occur in the time of sleep with no clinical manifestations or disturbances in the sleep cycle. Additionally, occipital activity at 4 Hz can be established, it is typical for such finding to be depressed after the opening of the eyes .
EEG in combination with functional magnetic resonance imaging (fMRI) can detect generalized spike and wave (GSW) signals that are associated with blood oxygen level dependent (BOLD) signal changes. Such signals are sought in the thalamus, cerebellum, premotor cortex, and in the putamen. Likewise, deactivation areas can be found in default mode network .
International league against epilepsy (ILAE) developed criteria to identify MAE . These are:
Nevertheless, MAE is purely an electroclinical diagnosis as there is an absence of diagnostic tests.