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Published on: May 16, 2019
Current treatment options for familial adult myoclonus epilepsy
Antonietta Coppola1, Raffaele Dubbioso1, Claudia Cuccurullo1
1Department of Neuroscience, Reproductive Sciences, and Odontostomatology, Federico II University of Naples, Naples, Italy.
Abstract:
Familial adult myoclonus epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus, and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and an antimyoclonic effect, such as valproate, levetiracetam, benzodiazepines, and perampanel. However, these medications control seizures well while having a limited effect on myoclonus and cortical tremor. In addition, many ASMs, including sodium channel blockers and gabapentin, are contraindicated in this condition. The ideal therapeutic option would be a precision treatment able to revert the genetic defect underlying it. Nevertheless, this does not seem to be an option that will be available soon.
Insights
Familial adult myoclonus epilepsy (FAME) is a rare genetic disorder. Current treatments manage seizures but offer limited relief for tremors and myoclonus, with some drugs being contraindicated.
Area of Science:
- Neurology
- Genetics
Background:
- Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder.
- It presents with cortical tremor, myoclonus, and epilepsy.
Purpose of the Study:
- To review the current therapeutic landscape for FAME.
- To highlight the limitations of existing treatments and the need for better options.
Main Methods:
- Literature review of existing studies and clinical guidelines on FAME management.
- Analysis of the efficacy and contraindications of various antiseizure medications (ASMs).
Main Results:
- Current management of FAME is symptomatic, relying on ASMs.
- ASMs like valproate, levetiracetam, benzodiazepines, and perampanel show efficacy for seizures but limited effect on myoclonus and tremor.
- Certain ASMs, including sodium channel blockers and gabapentin, are contraindicated in FAME.
Conclusions:
- There is currently no cure or preventive treatment for FAME.
- The ideal treatment would be a precision therapy targeting the genetic defect, which is not yet available.
- Further research is needed to develop more effective treatments for FAME.
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