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Myoclonic seizures are brief jerks of limbs or body lasting milliseconds. [6] Tonic seizures are abrupt increases in muscle tone greater than 2 seconds in duration. [6] Clonic seizures occur as rhythmic body jerks. [7] Myoclonic-atonic seizures begins with one or more jerks (myoclonic phase) followed by a loss of muscle tone (atonic phase). [6]
Progressive myoclonus epilepsy (PME) is a group of diseases characterized by myoclonus, epileptic seizures, tonic–clonic seizures, and other serious symptoms such as trouble walking or speaking. These rare disorders often get worse over time and can be fatal.
If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered. [1] Familial adult myoclonus Epilepsy (FAME) This is a condition characterized by the repetition of non-coding sequences and has been identified using various abbreviations. Initially, it was associated ...
Epilepsy/seizure type Focal and/or generalized seizures of various types (e.g., generalized tonic-clonic, atonic, myoclonic seizures, bilateral eyelid myoclonus, gelastic seizures) Atypical childhood epilepsy with centrotemporal spikes Continuous spikes and waves during slow-wave sleep syndrome Landau-Kleffner syndrome: Generalized and/or focal
The majority of patients (58.2%) have frequent myoclonic jerks, [13] with some sources stating that all patients with JME have myoclonic seizures. [10] Generalized tonic–clonic seizures are less common [13] but still reported in 85–90%. [10] Absence seizures are believed to be least common, with an estimated prevalence between 10% and 40%.
Syndromes are characterized into 4 groups based on epilepsy type: [1] a. Generalized onset epilepsy syndromes. These epilepsy syndromes have only generalized-onset seizures and include both the idiopathic generalized epilepsies (specifically childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic- clonic seizures alone), as well as ...
Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic ...
JME first presents between the ages of 12 and 18 with prominent myoclonic seizures. These seizures tend to occur early in the morning. Patients with JME may also have generalized tonic-clonic seizures and absence seizures. Linkage of this disorder has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2.