Current treatment of myoclonic astatic epilepsy wiley online library. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions myoclonus and seizures epilepsy. The cause of myoclonic astatic epilepsy is not known. Myoclonic astatic epilepsyidiopathic generalized epilepsy. Children often present with atonic seizures drop attacks and they often have additional seizure types including absence seizures, myoclonic seizures, and generalized tonicclonic seizures. Epilepsy with myoclonicastatic seizures springerlink. Little is known about the use of newer antiepileptic treatments aet in mae. Epilepsy with myoclonicatonic seizures genetic and rare.
Myoclonic astatic epilepsy mae of doose is a generalized epilepsy syndrome of young children characterized by multiple seizure typespredominantly myoclonic seizures ms, astatic seizures as, and myoclonic astatic seizures mas, as well as with generalized tonicclonic gtc, absence, myoclonic absence, and tonic seizures doose, 1992. The incidence of myoclonicastatic epilepsy was defined by doose and sitepu. Epilepsy is a disorder that results in repeated seizures. Guerrini and others published myoclonic astatic epilepsy find, read and cite all the research you need on researchgate. Absence seizures can happen when consciousness is lost briefly. Myoclonic atonic epilepsy is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Myoclonic seizures may be activated by photic stimulation in some patients, others may have myoclonic seizures that are induced by sudden noise or touch. Paradoxical exacerbation of myoclonic astatic seizures by levetiracetam in myoclonic astatic epilepsy yamane makke1, ghassan hmaimess2, wassim nasreddine1, ahmad fawaz1 and ahmad beydoun1 abstract background. In this syndrome, astatic seizures defined as seizures during which the patient is unable to stand occurred suddenly, without warning, and the children collapsed onto the floor as if their legs had been pulled from under them. Myoclonic epilepsy definition of myoclonic epilepsy by the. Identifying the doose gene slc6a1 mutations in myoclonic. Epilepsy with myoclonicastatic seizures represents approximately 12% of all childhood epilepsies kaminska et al. Welcome to our website doose syndrome epilepsy alliance. The presence of myoclonicastaticatonic seizure is a characteristic and.
Jul 25, 2018 epilepsy with myoclonic atonic seizures is a rare epilepsy syndrome of early childhood. Myoclonic astatic epilepsy mae is an epileptic syndrome characterized by unique myoclonus, myoclonic astatic, or astatic seizures in childhood. It is probably caused by a genetic abnormality but this has not been proven. It may be a normal phenomenon, as in the socalled sleep starts. Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus. Does autoimmunity have a role in myoclonic astatic epilepsy. The objective of the study was to explore clinical, electroencephalography eeg, neuropsychological features and prognosis of myoclonic astatic epilepsy mae. It usually starts around the ages of 18 months to 5 years and is more common in boys than girls. Myoclonic astatic epilepsy doose syndrome the epilepsy. However, the actual genetic make up for mae is unknown.
Therefore, it is important to be aware of this when considering a childs epilepsy diagnosis. Epileptic negative myoclonus and atonic seizures are the predominant seizure type in children with cryptogenic focal and. Cortical tremor is a jerky postural and action tremor of the hands, usually with adolescent or adult onset, accompanied by neurophysiological features of. Cannabidiol in drug resistant pediatric epilepsy paige davies, pharm. Myoclonic astatic epilepsy mae is a generalized epilepsy of early childhood.
In 1989, the international league against epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed epilepsy with myoclonic atonic seizures. Progressive myoclonus epilepsy pme is a group of conditions involving the central nervous system and representing more than a dozen different diseases. Like myoclonic seizures, myoclonic astatic seizures also called atonic or drop attacks are sudden, single events. Oct 28, 2015 the modified ilae criteria for mae are.
Pgy1 pediatric focused pharmacy resident seton healthcare family weeding out the controversy. Myoclonic astatic epilepsy definition of myoclonic astatic. Myoclonus is a brief less than half a second contraction involving agonist and antagonist muscles, leading to a sudden jerk. Development prior to seizure onset is usually normal.
Myoclonic astatic epilepsy mae, also known as doose syndrome, is an epilepsy syndrome of early childhood usually characterized by difficult to control generalized seizures. Myoclonicastatic epilepsy mae is an epileptic syndrome characterized by unique myoclonus, myoclonic astatic, or astatic seizures in childhood. Delineation of cryptogenic lennoxgastaut syndrome and. Childhood myoclonic astatic epilepsy is associated with prolonged and frequent seizures that can lead to cognitive decline 1, 2.
Myoclonic astatic epilepsy an overview sciencedirect topics. Three patients with symptomatic lgs mean age, 15 years 4 and three with cryptogenic mae mean age, 9 years 3 were studied. Myoclonic atonic epilepsy mae is also known as doose syndrome. Epilepsy and related syndromes useful organisations. Myoclonicastatic epilepsy is a generalized epilepsy syndrome with multiple seizure types, including myoclonic astatic, absences, tonicclonic, and eventually tonic seizures, appearing in a previously normal child between the ages of 18 and 60months, with a peak around 3years of age guerrini and aicardi, 2003. Epilepsy with myoclonic atonic seizures is a rare epilepsy syndrome of early childhood. Epilepsy with myoclonic atonic seizures emas was formerly known as myoclonic astatic epilepsy mae or doose syndrome. Myoclonic epilepsy synonyms, myoclonic epilepsy pronunciation, myoclonic epilepsy translation, english dictionary definition of myoclonic epilepsy. Myoclonicastatic epilepsy is sometimes called doose syndrome. Doose syndrome mae myoclonic astatic epilepsy epilepsy. Epilepsy with myoclonic atonic seizures emas epilepsy.
Negative myoclonus due to lapse of tone can only be demonstrated during antigravidic posture and may be combined with either a slow wave or the second, positive. Myoclonicastatic epilepsy epilepsy petit mal myoclonic. The prominent familial aggregation together with the characteristic seizure symptomatology dominated by myoclonic and myoclonic astatic seizures led. This section provides resources to help you learn, about medical research and ways to get involved. The underlying principle of the kd is to produce a state of ketosis. A oneminute consult to over 450 key epilepsy terms a b. To study the neurophysiologic characteristics of epileptic myoclonus in patients with lennoxgastaut syndrome lgs and myoclonic astatic epilepsy mae. It typically occurs in otherwise healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonicclonic seizures gtcs, and absence seizures. Cannabidiol in drug resistant pediatric epilepsy the author has no conflicts of interest to disclose. Epileptic negative myoclonus and atonic seizures are the predominant seizure type in children with cryptogenic focal and generalized epilepsies including myoclonic astatic epilepsy, respectively. Myoclonicastatic epilepsy, also known as doose syndrome, is a type of idiopathic childhood epilepsy presenting with astatic as well as myoclonic component. Search genetic and rare diseases information center. Myoclonicastatic epilepsy doose syndrome pediatric focus. It is usually characterised by generalised seizures, which may vary in type and frequency.
Myoclonic epilepsy an overview sciencedirect topics. Mae is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures idiopathic and the seizures originate. Different neurophysiologic patterns of myoclonus characterize. Myoclonic astatic epilepsy is a perplexing epilepsy syndrome that typically presents in preschool children with a fulminant onset. Epilepsy with myoclonicatonic seizures doose syndrome. Epilepsy with myoclonic atonic seizures previously known as epilepsy with myoclonic astatic seizures, or doose syndrome is a syndrome characterized by the presence of myoclonic atonic seizures in an otherwise normal child who may have a history of febrile andor afebrile seizures. Myoclonic astatic epilepsy mae pediatric epilepsy syndromes. Myoclonic astatic seizures atonic or drop attack the myoclonic astatic seizure is rare and unique to mae, and is one of the most important and distinct features which helps distinguish it from other epilepsy syndromes. The mainstays of medical therapy for myoclonic epilepsy are valproic acid sodium valproate, ethosuximide, or benzodiazepines clonazepam or clobazam. In even fewer instances, a fully specified epilepsy syndrome may be followed in time by another as in the case of a boy described by auvin and colleagues with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy or cases of juvenile myoclonic epilepsy following the diagnosis of mei described in the literature. The ketogenic diet for the treatment of myoclonic astatic. It is an uncommon childhood epilepsy that accounts for 12 out of 100 of all childhoodonset epilepsies.
They include jerks myoclonic seizures, sudden falls to the ground atonic or astatic seizures, or sometimes a jerk followed by a fall myoclonic astatic seizure. Please remove passport from wallet to read all 4 pages. Nomenclature of genetically determined myoclonus syndromes. It is characterized by the development of myoclonic seizures andor myoclonic astatic seizures. Myoclonic astatic epilepsy mae, or doose syndrome, is a rare severe childhood epilepsy associated with unspecific developmental problems. Complete seizure control can be achieved in about half of the cases with antiepileptic drug treatment doose and baier 1987b. They appear spontaneously or can be triggered by inappropriate treatment. In 1989, the international league against epilepsy recognized myoclonic astatic epilepsy as one of the symptomatic generalized epilepsies and laid down criteria for its diagnosis. Simultaneous eegfmri recordings were performed in children with mae.
Temporal relationships between electroencephalographic eeg and. These seizures, myoclonic astatic or myoclonic atonic seizures, eventually became the defining feature of an epilepsy syndrome referred to as myoclonic astatic epilepsy or doose syndrome. Seizures can be followed by drop attacks, which can lead to falls and injuries. Myoclonic epilepsy beginning in infancy or early childhood.
These symptoms often worsen over time and can be fatal. To identify neuronal networks underlying generalized spike and wave discharges gsw in myoclonic astatic epilepsy mae. Many studies suggest a strong genetic basis for mae. Spontaneous remission with normal development has been observed in a few untreated cases. To address genetic predisposition to febrile convulsions fcs and epilepsy as an etiologic background of severe myoclonic epilepsy in infancy smei. Myoclonicastatic seizures doose syndrome epilepsy alliance. Myoclonus epilepsy title research research listen research helps us better understand diseases and can lead to advances in diagnosis and treatment. Idiopathic andor symptomatic listed in order of age a. Progressive myoclonus epilepsy nord national organization. In his original paper, doose reported 51 children with the now traditional clinical semiology and electroencephalographic pattern were described. After taking whole exome sequencing, we found out that there is a. Myoclonic astatic epilepsy and the role of the ketogenic. Early onset and focal spike discharges as indicators of poor prognosis for myoclonicastatic epilepsy. Epilepsy with continuous spike waves during slow sleep electrical status epilepticus during slow sleep 119 epilepsy with myoclonic absences 121 epilepsy with myoclonic astatic seizures 121 epileptic encephalopathy 122 epileptogenesis secondary 122 ethosuximide zarontin 123 etiology 124 evoked potentials 125 evolution of epilepsy 127.
In the recent issue of the american journal of human genetics, we report on the first true gene for doose syndrome. Myoclonus jerks, hiccups, and sleep starts are very common and happen to all normal individuals. Epilepsy is not one specific disease, but rather a group of symptoms that are manifestations of any of a number of conditions involving overstimulation of nerve cells of the brain. Request pdf myoclonic astatic epilepsy and the role of the ketogenic diet the ketogenic diet remains one of the most effective treatments for medically refractory childhood epilepsy. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset summary by carvill et al. Quite often, there are effects on a childs development and behaviour.
Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following. Of 327 children aged between 1 and 9 years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 5. Mae affects boys more than girls and starts in early childhood with the first seizure usually occurring between 2 to 6 years of age. The purpose of this study was to describe the characteristics, treatment, and outcome of a contemporary mae cohort exposed to the new generation aet. The authors describe the history of study of myoclonic astatic epilepsy, its prevalence. Jul 27, 2016 the first concept of myoclonicastatic epilepsy mae dates back to the 1960s when myoclonic epilepsies of early childhood were separated from infantile spasms and lennoxgastaut syndrome lgs. A sudden irregular twitching of muscles or parts of muscles, occurring in various brain disorders. Both early seizure onset and the focal spike discharges.
Myoclonic astatic epilepsy doose syndrome childhood. Genetics plays an important role in this condition, and in some cases a family history of seizures can be found. Repeated unconsciousness and bilateral limb weakness lasted for 3 years. An epileptic seizure is caused by unusual electrical activity in the brain. Myoclonicastatic epilepsy of early childhood definition. Those two groups meet the characteristics of childhood onset myoclonicastatic epilepsy mae with respectively, favourable and unfavourable outcome. Juvenile myoclonic epilepsy symptoms, causes, and treatments.
This is potentially important as the first two categories need to \. Eeg showed long sequences of generalised irregular spike and slow waves. Myoclonic astatic epilepsy an overview sciencedirect. A number of different antiepileptic medications may be efficacious, although phenobarbital, lamotrigine, vigabatrin, and carbamazepine may worsen the seizures in some cases. It presents in children with previously normal development but can cause some degree of mental disturbance later in life. Juvenile myoclonic epilepsy genetic and rare diseases. Myoclonicastatic epilepsy epilepsy petit mal myoclonic astatic. Myoclonic epilepsy causes the muscles in the body to contract. Doose64 described a group of children with myoclonic and astatic seizures, often in combination with absence, generalized tonicclonic, and tonic seizures. The ketogenic diet kd is a treatment for medically refractory epilepsy.
Treatment with steroids led to resolution of seizures and. Myoclonic astatic epilepsy doose syndrome epilepsy action. Lev efficacy against myoclonic seizures has led to its off label use in a variety of conditions associated with myoclonus including postanoxic myoclonus and childhood epilepsies with myoclonic seizures 810. Paradoxical exacerbation of myoclonicastatic seizures by levetiracetam in myoclonic astatic epilepsy yamane makke1, ghassan hmaimess2, wassim nasreddine1, ahmad fawaz1 and ahmad beydoun1 abstract background. Myoclonus and epilepsy in childhood, epilepsy research 10. Treatment of myoclonicastatic epilepsy is often very difficult. When pathological, myoclonus is a symptom of a broad range of neurological and systemic diseases. Mae onset in patients with refractory seizures occurs earlier than in those with favorable prognosis.
Astatic epilepsy mae or doose syndrome and positive vgkc antibodies in serum. Genetic predisposition to severe myoclonic epilepsy in. However, there are some serious forms of myoclonus which may make activities like sleeping, eating, or talking difficult for an individual. The seizures were investigated precisely by videoeeg n5, polygraph n2, and videopolygraph n23, which identified myoclonic seizures in 16 cases myoclonic. Dec 19, 2017 juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks quick jerks of the arms or legs, generalized tonicclonic seizures gtcss, and sometimes, absence seizures. Doose syndrome mae myoclonic astatic epilepsy doose syndrome is an epilepsy syndrome of childhood, that is often resistant to medication and for this reason it is typically difficult to treat. Seizures can be triggered by lack of sleep, extreme. Juvenile myoclonic epilepsy jme is a type of epilepsy that starts in in childhood or the teen years people who have it wake up from sleep with quick, jerking movements of their arms and legs. Epilepsy with myoclonic astatic seizures has a variable course and outcome. Myoclonic astatic epilepsy mae, or doose syndrome, is an epilepsy syndrome of early childhood that is often resistant to medication. Myoclonus is a hyperkinetic movement disorder characterized by sudden, brief, involuntary jerks of a single or multiple muscles. We present two children diagnosed with epilepsy with myoclonic astatic epilepsy mae who experienced a substantial exacerbation of. Myoclonic astatic epilepsy mae, also known as myoclonic atonic epilepsy or doose syndrome, is a generalized idiopathic epilepsy.
The objective of the study was to explore clinical, electroencephalography eeg, neuropsychological features and prognosis of myoclonicastatic epilepsy mae. Prognosis was excellent when eeg findings show no focal spike discharges. This rare inherited disorder affects muscles cells. Myoclonic astatic epilepsy was first clearly described as an independent epilepsy syndrome by dr hermann doose 4 in 1970. Myoclonus and epilepsy in childhood epileptic, cortical and thalamocortical myoclonus are combined with a spike which, when it is focal, needs backaveraging to be demonstrated. Doose syndrome, otherwise traditionally known as myoclonic astatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. Myoclonic astatic epilepsy was first described and identified in 1970 by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. Mae is typically treated with antiseizure medications that are used for generalized epilepsy syndromes, with perhaps a best response to valproate, felbamate, or the ketogenic diet.
Myoclonicastatic epilepsy is a generalized epilepsy syndrome with multiple seizure types, including myoclonicastatic, absences, tonicclonic, and eventually tonic seizures, appearing in a previously normal child between the ages of 18 and 60months, with a peak around 3years of age guerrini and aicardi, 2003. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Alternatively, it may signal nonorganic illness 8% of myoclonus is psychogenic. Symptomatic generalized epilepsy sge encompasses a group of challenging epilepsy syndromes. This type of seizure causes quick jerking movements. Progressive myoclonus epilepsy is a disease associated with myoclonus, epileptic seizures, and other problems with walking or speaking. After 9 years of medically resistant myoclonic seizures, extensive.
Children will experience drop and staring seizures, sometimes associated with falls. Myoclonic astatic epilepsy valproic acid, levetiracetam, ketogenic diet benign myoclonic epilepsy valproic acid table 1. The epilepsy medicines that have been most successful are sodium valproate. Myoclonus epilepsy definition of myoclonus epilepsy by.
It is characterized by seizures of many different types, most often myoclonic atonic, astatic, or generalized tonicclonic seizures. The ketogenic diet for epilepsy learn about the diet, the. Individual gswassociated blood oxygenation leveldependent bold signal changes were analyzed in every patient. Ketogenic diet has been proved to be very effective on those cases. Gucsavascalikoglu, in biomarkers in inborn errors of metabolism, 2017. Myoclonus epilepsy usually brings about sudden movements in both sides of the body. Juvenile myoclonic epilepsy jme or janz syndrome, previously impulsive petit mal, is one of the most common generalized epilepsy syndromes of childhood. Myoclonic epilepsy with ragged red fibers merrf is another multisystemic mitochondrial disorder, so named because of the canonical features of myoclonus, epilepsy, ataxia, and ragged red fibers on muscle biopsy. Pdf study of epileptic drop attacks in symptomatic. Types of childhood epilepsy, childhood epilepsies include some of the simplest as well as the most difficult seizure types to treat. Study of epileptic drop attacks in symptomatic epilepsy of early childhood differences from those in myoclonic astatic epilepsy.