Background Progressive myoclonus epilepsies (PMEs) are a group of rare inherited diseases featuring a combination of myoclonus, seizures and variable degree of cognitive impairment. Despite extensive investigations, a large number of PMEs remain undiagnosed. In this review, we focus on the current pharmacological approach to PMEs. Methods References were mainly identified through PubMed search until February 2017 and backtracking of references in pertinent studies. Results The majority of available data on the efficacy of antiepileptic medications in PMEs are primarily anecdotal or observational, based on individual responses in small series. Valproic acid is the drug of choice, except for PMEs due to mitochondrial diseases. Levetiracetam and clonazepam should be considered as the first add-on treatment. Zonisamide and perampanel represent promising alternatives. Phenobarbital and primidone should be reserved to patients with resistant disabling myoclonus or seizures. Lamotrigine should be used with caution due to its unpredictable effect on myoclonus. Avoidance of drugs known to aggravate myoclonus and seizures, such as carbamazepine and phenytoin, is paramount. Psychiatric (in particular depression) and other comorbidities need to be adequately managed. Although a 3- to 4-drug regimen is often necessary to control seizures and myoclonus, particular care should be paid to avoid excessive pharmacological load and neurotoxic side effects. Target therapy is possible only for a minority of PMEs. Conclusions Overall, the treatment of PMEs remains symptomatic (i.e. pharmacological treatment of seizures and myoclonus). Further dissection of the genetic background of the different PMEs might hopefully help in the future with individualised treatment options.

Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies.

The Natural History of Epilepsy

Pharmacotherapy for Medication-Resistant Epilepsy

Malformations of Cortical Development as Causes of Medication-Resistant Epilepsy

Reproductive Health for Women with Medication-Resistant Epilepsy

We present the first reported case of a rapid clinical and electroencephalographic response to intravenous levetiracetam infusion of myoclonic status epilepticus in a patient with progressive myoclonus epilepsy due to Gaucher disease. Under continuous video-EEG monitoring, the clinical myoclonic status and the electrographic ictal discharges resolved within 10 minutes after the infusion was initiated. The patient tolerated the treatment well without any reported side effects. This case suggests that levetiracetam may be a safe, effective, and well tolerated intravenous drug in patients with metabolic myoclonic status epilepticus such as Gaucher disease.

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Timothy J. Lenz

Papers

Gaucher disease: successful treatment of myoclonic status epilepticus with levetiracetam

Determining a Need for Point-of-Care Ultrasound in Helicopter Emergency Medical Services Transport

Direct Versus Video Laryngoscopy in a Helicopter Emergency Medical Services Setting: A Retrospective Comparison.

Helicopter Emergency Medical Services Utilization.

The Safety and Utility of Ground Transport of Traumatic Cardiopulmonary Arrest Patients by Helicopter Emergency Medical Services Crews.