What is it like?

Progressive myoclonic epilepsies feature a combination of myoclonic and tonic-clonic seizures. Unsteadiness, muscle rigidity, and mental deterioration are often also present.

Who gets it?

This is a group of rare disorders. Hereditary metabolic disorders are often responsible, but sometimes metabolic test results are normal and the cause remains unknown.

The disorders affect both sexes. The age of onset can vary from infancy to adulthood, depending upon the specific type of myoclonic epilepsy.

Tell me more

Progressive myoclonic epilepsy is not a single disorder but includes a group of syndromes with various names. Some of them are:

  • Severe myoclonic epilepsy of infancy (Dravet syndrome)
  • Unverricht-Lundborg disease (also called Baltic myoclonus)
  • Lafora disease
  • Mitochondrial encephalopathies

Genetic testing is available to identify most of the disorders.

How is it treated?

The medical treatment of progressive myoclonic epilepsy is often successful only for a few months or years. These patients may require more than one seizure medicine. As the disorder progresses, the medications become less effective, and side effects may be more severe as more of them are used at higher doses. In such cases, it is often worthwhile to try lower doses.

  • Depakote (valproate)is most commonly used.
  • Other seizure medicines used include Keppra (levetiracetam), Topamax (topiramate), Klonopin (clonazepam), and Zonegran (zonisamide).
  • While Lamictal (lamotrigine)can be used, in rare patients the drug can make seizures worse.
  • Neurontin (gabapentin), Tegretol/Carbatrol (carbamazepine), Trileptal(oxcarbazepine, and Dilantin (phenytoin) usually do not help and can worse the condition).

What's the outlook?

The outlook is generally unfavorable. Seizures are difficult to control and patients often lose abilities involving thinking and movement. However, the course of the various syndromes varies considerably from individual to individual.

 

Authored By: 
Gregory L. Holmes, MD
Reviewed By: 
Bob Fisher, MD
Reviewed Date: 
Tuesday, September 3, 2013