Myoclonic epilepsy is a disorder characterized by seizures affecting the neck, shoulders, and upper arms. It can be part of a larger seizure disorder, and some types can be life-threatening. Juvenile myoclonic epilepsy is a common genetic form that can be controlled with medication. Progressive myoclonic epilepsy is a more debilitating group of disorders that can cause both myoclonic and tonic-clonic seizures. The primary causes of epilepsy are still unknown, but treatment with medication can help control seizures.
Myoclonic epilepsy is a medical disorder characterized by seizures that primarily affect the muscles of the neck, shoulders and upper arms. Seizures are neurological “failures” or problems with signaling in the brain; People who have recurring seizures are often said to have epilepsy, which is its defining condition. Seizures that are specifically myoclonic cause the muscles in the neck and arms to spasm or twitch, often violently. Not all myoclonic seizures are indicative of epilepsy – people can and often experience them in isolation, or only sporadically – but they are also often part of a larger seizure disorder. The condition is often first diagnosed in children, and juvenile variations of the disorder may not be as severe. When the problem is “progressive,” however, it can be life-threatening; people with this variation often find that their seizures get worse each time they strike, and the potential for lasting brain damage also increases with each episode. Medical experts aren’t sure what causes myoclonic seizures and epilepsy, but both conditions can usually be treated with medication.
Understand epilepsy in general
Epilepsy is a group of neurological syndromes that arise 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 part of the brain. Myoclonic epilepsy primarily presents as seizures in the neck, shoulders, and upper arms. There are many types of epilepsy that are typically classified based on a number of factors, such as age at onset of the disease, the type of seizures, the part 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 in 1,500 people.
Notable myoclonus symptoms
Myoclonus is a type of seizure that causes a brief episode of involuntary muscle contractions, mostly in the neck, shoulders, and upper arms. These usually occur in the morning shortly after waking up, but can also occur while sleeping. Many people have occasional myoclonic episodes such as hiccups or sleep onset, but never develop epilepsy. To receive a diagnosis of epilepsy, a person usually must have an established pattern of the same seizure type within a short amount of time.
Juvenile Disorders
Juvenile myoclonic epilepsy (JME) is one of the most common forms of the disease. It represents 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.
The medical histories of patients with JME reveal that many of them experienced absence seizures as children. An “absence crisis” involves a moment of fixation or “distancing” when the person does not respond to any external stimuli. These episodes usually pass quickly, and the person having the seizure is usually unaware that anything unusual has occurred. Children who have them regularly are often diagnosed with a condition called infantile absence epilepsy (CAE). About 15% of children with CAE eventually develop JME.
Individuals with JME generally do not lose consciousness during attacks and usually do not experience mental problems as a result. While there is no cure, JME seizures can usually be successfully controlled through medication. In most cases the medicine must be taken for life but, with treatment, patients with JME can usually participate in normal activities unimpeded by the condition.
Progressive varieties
A much more debilitating group of epileptic disorders is progressive myoclonic epilepsy (PME). These include Dravet syndrome, Unverrict-Lundborg disease, Lafora disease, and mitochondrial encephalopathies, among others. Patients with PME experience both myoclonic and tonic-clonic seizures.
A tonic-clonic seizure, formerly called a grand mall, begins with a sudden tightening of the body’s muscles. The person loses consciousness, falls, and then starts shaking all over. This type of attack is not only physically harmful, but also often causes a loss of metal capacity. Treatment is very difficult, as the drugs often lose their effectiveness in controlling seizures after a short time.
Primary causes
Researchers don’t know exactly what causes epilepsy in its many forms. However, several genes have been identified as the cause of some forms of the disorder, which represents a significant step forward in the prediction and ultimately prevention of the disease. While there is currently no cure, great strides have been made in treatment. Most people diagnosed with myoclonic seizure disorder and epilepsy can lead normal lives as long as they adhere to a specific regimen of medications and monitoring.
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