Perioral myoclonia with absences

Perioral myoclonia with absences (POMA) is a rare form of idiopathic generalized epilepsy characterized by absence seizures accompanied by rhythmic myoclonic jerks of the muscles around the mouth (perioral region), including the lips, chin, and jaw. This condition was first described by Panayiotopoulos in 1994 and is sometimes referred to as Panayiotopoulos-type perioral myoclonia with absences. The hallmark feature is brief episodes of impaired consciousness (absence seizures) during which involuntary, rhythmic twitching movements of the perioral muscles occur. These myoclonic jerks are typically subtle and may be accompanied by mild tonic contraction of the jaw muscles. The electroencephalogram (EEG) during seizures shows generalized 3 Hz spike-and-wave or polyspike-and-wave discharges. The condition primarily affects the central nervous system. POMA typically begins in childhood or adolescence, though onset can extend into adulthood. The absence seizures may be frequent and can be provoked by hyperventilation. Some patients may also experience generalized tonic-clonic seizures. The condition tends to be resistant to treatment compared to other forms of absence epilepsy, and seizures often persist into adulthood. Standard antiepileptic medications used for generalized epilepsies, such as valproate, ethosuximide, and lamotrigine, are the mainstays of treatment, though complete seizure control may be difficult to achieve. There is ongoing debate regarding whether POMA represents a distinct epilepsy syndrome or a variant of other idiopathic generalized epilepsies. A family history of epilepsy is common, suggesting a genetic predisposition, though the precise genetic basis has not been fully elucidated.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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