Juvenile myoclonic epilepsy - A form of generalized epilepsy, the basis of the clinical picture of which consists of myoclonic seizures - asynchronous muscle contractions, temporarily resulting in symmetrical parts of the body, mainly in the arms and shoulder girdle. Along with myoclonic episodes can be observed in the clinic absences and clonic-tonic generalized epipristupy. Juvenile myoclonic epilepsy is diagnosed on the basis of the disease and the results of clinical electroencephalography, to the exclusion of organic cerebral pathology according to the neurological examination and MRI. Treatment is carried out mainly drugs valproic acid. As a rule, you need lifelong monitoring epileptologa.
Juvenile myoclonic epilepsy
epilepsy (JME) is up to 12% of all forms of this disease, and approximately 23% of cases of idiopathic generalized epilepsy. JME is a form of myoclonic epilepsy - generalized epilepsy with myoclonic seizures occurring. This group of diseases is also included: children's benign myoclonus, West syndrome (myoclonic encephalopathy of childhood with cerebral hypsarrhythmia) Laforêt disease, etc. The first description of JME is dated 1867 however, as a separate nosological unit juvenile myoclonic epilepsy was isolated only in 1955 . on a proposal from a group of German doctors led by Yantsem, after which it became referred to as Janz syndrome. and the term "impulsive petit mal» can be found in the scientific literature on neurology and Epileptology.
Geneticists are inclined to think about the mechanism of inheritance of polygenic myoclonic epilepsy. The specific pathogenesis of JME is not identified.
status epilepticus. A distinctive feature is the complete preservation of the patient's consciousness during myoclonic paroxysm, even in those cases when it comes to myoclonic status.
In 3-5% of cases of juvenile myoclonic epilepsy occurs only with the presence of myoclonic seizures. In the vast majority of cases (approximately 90%) some time after the onset of the disease (average 3 years) the patient has generalized tonic-clonic epipristupy. They can start with a series of increasing myoclonic jerks, then passing into clonic-tonic convulsions. Approximately 40% of patients have absence seizures - brief episodes of "off" of consciousness.
neurologist, when the child begins tonic-clonic seizures. The study of neurological status does not determine any violations. For precise exceptions cerebral pathology (intracerebral tumor, brain abscess, cerebral cysts, encephalitis, intracerebral hematoma) and organic epipristupov conducted MRI brain. If you want to exclude an aneurysm patient's brain vessels in the brain is sent to MR angiography.
Further diagnosis of JME held epileptologist. Its basis is electroencephalography (EEG). At 75%, it reveals the presence of interictal epileptiform patterns. Enroll bilaterally symmetrical paroxysmal discharges consisting of complexes polyspike wave with a frequency of 4-6 Hz. In 17% of cases occur complexes frequency of 3 Hz. Ictal EEG shows spikes high and Peak-frequency 10-16 Hz, followed by slow waves of irregular nature recorded. The number of spikes paroxysm varies from 5 to 20 and is not rather dependent on the duration and intensity of the attack. For early diagnosis of JME may be required on waking EEG, EEG monitoring daily, provoking tests (sleep deprivation, photic stimulation).
Massive and bilateral synchrony distinguishes JME paroxysms of epileptic myoclonus, which are sporadic episodes and focal character. Juvenile myoclonic epilepsy also requires differentiation from other forms of epilepsy with myoclonic episodes occurring. Thus, in contrast to the JME, epilepsy with generalized convulsive paroxysms awakening or absence epilepsy, myoclonic paroxysms are not dominant in the clinical picture of the disease. Epilepsy with myoclonic-astatic paroxysms, Lennox-Gastaut syndrome and epilepsy with myoclonic absences debut earlier in childhood and are accompanied by mental retardation. The latter is characterized by seizures, myoclonic seizures in which are combined with absences, while JME paroxysms occur without impairment of consciousness.
It is important not only pharmacotherapy of epilepsy, and patient compliance with certain vital standards to avoid provoking attacks. As with other types of epilepsy, juvenile myoclonic epilepsy with seizures can be caused by a violation of the regime of mental and physical overload, stress, lack of sleep, alcohol intake containing beverages. Therefore, patients should avoid these trigger factors. Positively affect the course of the disease quiet, simple and leisurely lifestyle, exposure to nature, away from the bustle of the city. In this regard, some families where the child is diagnosed JME, move and live in the village.
Drug therapy JME held valproate. Monotherapy with these drugs was effective against all types of attacks, accompanying JME clinic - myoclonic, tonic-clonic and absence seizures. In monotherapy failure possible combination therapy. Relief resistant absences achieved by a combination of valproate with ethosuximide resistant clonic-tonic seizures - a combination of valproate with phenobarbital or primidone. For the control of myoclonic paroxysms clonazepam is effective, but it does not apply to generalized tonic-clonic seizures. This complete relief of myoclonic seizures deprives the patient to know in advance the possibility of an impending tonic-clonic seizures on emerging before him myoclonic manifestations. Therefore, the appointment of clonazepam is justified only when persistent myoclonic epileptic and must be combined with the drug valproic acid. Results of treatment of JME new generation of antiepileptic drugs (levetiracetam, lamotrigine, topiramate) is tested in a clinical setting. The high prospect of levetiracetam.
Juvenile myoclonic epilepsy is considered a chronic disease that lasts for the entire life of the patient. Cases of spontaneous remission is rare. In 90% of patients who for various reasons have interrupted treatment antiepileptic drugs, there is a renewed epipristupov. However, there are indications that in some cases, in patients after discontinuation of the drug was observed long-term remission.
In general, when properly chosen therapy seizures are controlled in most patients, although half of them individual paroxysms may occur during treatment. Relatively resistant to therapy for rarely observed, mainly in cases where patients have all 3 varieties paroxysms JME.