What is Myoclonic Epilepsy?

Myoclonic epilepsy is a medical disorder characterized by seizures that primarily affect the muscles of the neck, shoulders, and upper arms. Seizures are neurological “misfires,” or problems with signaling in the brain; people who have recurring seizures are often said to suffer from epilepsy, which is its own defined condition. Seizures that are specifically myoclonic cause the muscles of the neck and arms to spasm or twitch, often violently. Not all myoclonic seizures are indicative of epilepsy — people can and often do experience them in isolation, or only sporadically — but they are frequently also part of a larger seizure disorder. The condition is often first diagnosed in children, and juvenile variations of the disorder may not be as serious. When the problem is “progressive,” though, it can be life threatening; people with this variation often find that their seizures get worse every time they hit, and the potential for lasting brain damage increases with each episode, too. Medical experts aren’t sure what causes myoclonic seizures and epilepsy, but both condition can usually be treated with medication.

Epilepsy is a group of neurological syndromes that stem from the brain and affect the nervous system, usually resulting in seizures. A seizure is caused by a sudden burst of electrical activity in a certain portion of the brain. Myoclonic epilepsy primarily presents as seizures in the neck, shoulders, and upper arms. There are many types of epilepsy that are normally classified according to a number of factors, such as the age of onset of the disease, the type of seizures, the portion of the brain involved, the cause of the condition, and what triggers the episodes. Experts usually estimate that epilepsy in some form occurs in about 1 out of every 1,500 people.

Myoclonus is a type of seizure that causes a brief episode of involuntary muscle twitching, primarily in the neck, shoulders and upper arms. These usually occur in the morning shortly after waking up, but can also happen during sleep. Many people have occasional myoclonic episodes such as hiccups or sleep starts, yet never develop epilepsy. In order to receive a epilepsy diagnosis, a person usually has to have an established pattern of the same sort of seizure over a short span of time.

Juvenile myoclonic epilepsy (JME) is one of the most common forms of the disease. It accounts for between 5% and 10% of all epileptic syndromes. It is generally a genetic condition that typically first appears between the ages of 12 and 18.

Clinical histories of patients with JME reveal that many of them experienced absence seizures as young children. An “absence seizure” involves a moment of staring or “spacing out” when the person is non-responsive to any outside stimuli. These episodes usually pass quickly, and the person having the seizure is generally unaware that anything unusual has occurred. Children who have these regularly are often diagnosed with a condition called childhood absence epilepsy (CAE). About 15% of children with CAE eventually develop JME.

Individuals with JME generally do not lose consciousness during seizures and don’t usually have any mental problems as a result. While there is no cure, JME seizures can usually be controlled successfully through medication. In most cases the medicine must be taken for life but, with treatment, patients with JME can generally participate in normal activities unhindered by the condition.

A much more debilitating group of epileptic disorders is progressive myoclonic epilepsy (PME). These include, among others, Dravet syndrome, Unverrict-Lundborg disease, Lafora disease, and mitochondrial encephalopathies. PME patients experience both myoclonic and tonic-clonic seizures.

A tonic-clonic seizure, once called grand mall, begins with a sudden tightening of the body’s muscles. The person loses consciousness, falls down, and then begins to shake all over. This type of seizure is damaging not only physically, but frequently causes a loss of metal ability as well. Treatment is very difficult, since drugs often lose their effectiveness in controlling the seizures after a short period of time.

Researchers don’t know exactly what causes epilepsy in its many forms. Several genes have been identified as causing certain forms of the disorder, though, which is a significant step forward in predicting and eventually preventing the disease. While there is currently no cure, great strides have been made in treatment. Most people who are diagnosed with myoclonic seizure disorders and epilepsy can lead normal lives as long as they stick to a specific regimen of medication and monitoring.