Progressive Myoclonic Epilepsy

Patient/Family Story

At first the doctors just thought Avi had a seizure because he was growing so fast. Then he had more grand mal seizures, and they started him on medication. Each drug seemed to work for a while and then it was as if his body became immune to it. They tried more and more drugs, two or three at a time, and the seizures just became more frequent. The worst part was that Avi was slipping -- he was changing. He was not as sharp and quick as he had been. We blamed the drugs, but it just got worse and worse. Over the next few years Avi’s mind seemed to get slower and slower. Then came the little seizures that would cause his speech to sputter and hesitate and his mind to turn on and off, like someone was taking a light switch and flicking it up and down.

What are Progressive Myoclonic Epilepsies?

Progressive myoclonic epilepsies are rare and frequently result from hereditary metabolic disorders. They feature a combination of myoclonic and tonic-clonic seizures. Unsteadiness, muscle rigidity, and mental deterioration are often also present.

How are Progressive Myoclonic Epilepsies Treated?

Progressive myoclonic epilepsies are treated with medication, which usually proves to be successful for a short period of time (months to years). However, as the disorder progresses drugs become less effective, and adverse effects may be more severe as more drugs are used at higher doses. Valproate and zonisamide are most commonly used. Other commonly prescribed drugs include clonazepam, lamotrigine, topiramate, phenobarbital and carbamazepine.

Types of Progressive Myoclonic Epilepsies

  • Mitchondrial Disorders
  • Unverricht-Lundborg Syndrome