Doose syndrome, also called myoclonicastatic epilepsy mae, is an epileptic condition in children that has no known cause. Myoclonic astatic epilepsy is a perplexing epilepsy syndrome that typically presents in preschool children with a fulminant onset. Cognitive deterioration in lennoxgastaut syndrome and doose epilepsy. The purpose of this series is to briefly highlight a range of rare health conditions. Other sz types incluse absence and tonicclonic grand mal. Myoclonicastatic epilepsy was first described and identified in 1970 by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. Ketogenic dietary therapy for doose syndrome written by. Myoclonic astatic epilepsy doose syndrome epilepsy action. Antons page is dedicated to spreading awareness of doose syndrome and childhood epilepsy to as many people as. Randomized, doseranging safety trial of cannabidiol in. The natural history of myoclonic astatic epilepsy doose. Highfat diets and seizure control in myoclonicastatic epilepsy.
The term severe paediatric epilepsy syndrome does not have a precise meaning. Myoclonicastatic epilepsy mae was first described and identified in the late 1960s by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. Seizures usually start between the ages of 7 months and 6 years and are hard to control because they dont respond well to medication. Epilepsy with myoclonicatonic seizures genetic and rare. Epilepsy with myoclonic atonic seizures emas epilepsy. New smarca2 mutation in a patient with nicolaidesbaraitser. Top 25 questions of doose syndrome discover the top 25 questions that someone asks himselfherself when is diagnosed with doose syndrome doose syndrome forum. Jul 25, 2018 doose syndrome alliance provides detailed information on myoclonic astatic epilepsy. Doose syndrome symptoms, causes, diagnosis, and treatment information for doose syndrome epilepsy with myoclonicastatic crisis with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Cognitive deterioration in lennoxgastaut syndrome and doose. Gavins battle, doose syndrome epilepsy home facebook. How do we diagnose and treat epilepsy with myoclonicatonic seizures doose syndrome. Individual gswassociated blood oxygenation leveldependent bold signal changes were analyzed in every patient.
Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many hcas and nurses will encounter some of these conditions, given the high number of these conditions. In 1989, the international league against epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed epilepsy with myoclonicatonic seizures. We are also a level 4 epilepsy center, providing the highest level of treatment for children. Although several genetic and structural etiologies have been purported. This syndrome was otherwise known as myoclonicastatic epilepsy, and was redefined in 2010 by the international league against epilepsy as epilepsy with myoclonicatonic seizures. Some children outgrow it others while others deveopmentally delays bad persitant szs. It makes up only a small percentage of the forms of epilepsy. Brain scans, including magnetic resonance imaging mri scans, and blood tests are usually normal. Children with myoclonicastatic epilepsy are not usually photosensitive.
To identify neuronal networks underlying generalized spike and wave discharges gsw in myoclonic astatic epilepsy mae. Lennoxgastaut syndrome lgs is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow this disease is deprecated and has been moved to another see annex. It is an uncommon childhood epilepsy that accounts for 12 out of 100 of all childhoodonset epilepsies. Objective to evaluate the safety and preliminary pharmacokinetics of a pharmaceutical formulation of purified cannabidiol cbd in children with dravet syndrome. Ketogenic diet therapy kd has been used to mostly treat children with refractory generalized epilepsies in early or later childhood, i. Mae is a childhood seizure disorder that is often not easily controlled by conventional medications. When videoeeg polygraphy holds the key to syndrome diagnosis. Doose syndrome top 25 questions doose syndrome map. Doose syndrome epilepsy with myoclonicatonic seizures is an epilepsy syndrome with an incidence of approximately 12% of childhoodonset epilepsies. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best.
For language access assistance, contact the ncats public information officer. It is an epilepsy syndrome of early childhood, which is resistant to medication. Tell a friend about us, add a link to this page, or. These seizures, myoclonicastatic or myoclonicatonic seizures, eventually became the defining feature of an epilepsy syndrome referred to as myoclonic astatic epilepsy or doose syndrome.
If you have problems viewing pdf files, download the latest version of adobe reader. Pdf epilepsy with myoclonic atonic seizures doose syndrome. Longterm seizure control with high fat diets in doose syndrome. The doubleblind trial comprised 4week baseline, 3week treatment including titration, 10day taper, and 4week. Dravet syndrome symptoms, life expectancy and treatment. An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. An expert consensus has defined panayiotopoulos syndrome as a benign agerelated focal seizure disorder occurring in early and midchildhood. Results of the pediatric epilepsy research consortium survey. The longterm outcome for children with mae is highly variable. Dravet syndrome ds, also known as severe myoclonic epilepsy of infancy smei, is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities. First here is a link for a parent support group for children who have doose syndrome, otherwise known as myoclonicastatic epilepsy and also explained under cryptogenic and idiopathic generalized epilepsies. Pdf successful corpus callosotomy for doose syndrome. Apr 16, 2015 these seizures, myoclonicastatic or myoclonicatonic seizures, eventually became the defining feature of an epilepsy syndrome referred to as myoclonic astatic epilepsy or doose syndrome.
She was diagnosed epileptic in the beginning of 20 and then was diagnosed with doose syndrome in the middle of 2014. It almost always beginsin an 1850 month child who is developmentally normal until the szs begin. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication. This form of epilepsy was only identified in the 1960s by a dr. Oct 28, 2015 based on these findings, a variant of epilepsy with myoclonicatonic seizures maedoose syndrome was felt possible as the underlying syndromic diagnosis, accounting for the intractability of epileptic seizures as well as for the emerging cognitive difficulties.
The seizures, which often begin between the ages of 1 and 5, can be frequent and involve the abrupt loss of muscle control, causing the child to fall to the ground, often resulting in injury. Simultaneous eegfmri recordings were performed in children with mae. Doose syndrome is an epilepsy syndrome that was first reported in 1970 as centrencephalic myoclonicastatic petit mal. Ds was first described by charlotte dravet in 1978 and was found to have a genetic basis in 2001, with discovery of mutations in the voltagegated.
Myoclonicastatic epilepsy mae, or doose syndrome, is classically considered an idiopathic generalized epilepsy syndrome. Dravet syndrome, doose syndrome, and lennoxgastaut syndrome, because it is commonly indicated to patients with refractory generalized epilepsy between 2 and 8 years old. Treatment of myoclonicastatic epilepsy is often very. The convulsive seizure is the most common type seen in ds. Children with mae who have long or clusters of seizures may need emergency medical treatment or treatment with a rescue. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonicclonic seizures. A group analysis was performed to determine common syndrome. Myoclonic astatic epilepsy, doose syndrome, epilepsy with myoclonicastatic seizures, epilepsy with myoclonoastatic crisis. It begins in the first year of life and affected children are previously normal. Seizures can be followed by drop attacks, which can lead to falls and injuries. Statistics of doose syndrome map check how this condition affects the daily life of people who suffer it. In the recent issue of the american journal of human genetics, we report on the first true gene for doose syndrome.
What is the life expectancy of someone with doose syndrome. Epilepsy with myoclonicatonic seizures doose syndrome. Doose syndrome definition of doose syndrome by medical. May 02, 2018 this data is associated with the following publication. Mae is an epilepsy syndrome of early childhood that is often resistant to medication and for. As with most medical disorders, the spectrum of severity seen in mae ranges from mild to those more severely affected. Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. Orphanet report series list of rare diseases and synonyms listed in alphabetical order january 2020. Epilepsy with myoclonic atonic seizures doose syndrome.
How do we diagnose and treat epilepsy with myoclonic. However there are varying degrees of severity of the condition, and some children may easily respond to the first line aeds antiepileptic drugs prescribed. Children mildly affected by mae may find that their seizures are quickly and easily controlled with firstline medications. Doose syndrome a rare familial type of primary generalized myoclonic astatic epilepsy. Become golden ambassador answering these questions. River is my 6 year old daughter who was diagnosed with myoclonic astatic epilepsy or doose syndrome. Cognitive deterioration in lennoxgastaut syndrome and. Kids typically develop normally up until the age when doose syndrome symptoms show, and then most of those affected develop problems with learning. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms.
Eegfmri in myoclonic astatic epilepsy doose syndrome. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early childhood. Doose syndrome epileptic syndromes learning disabilities, other. Doose syndrome is a form that affects kids between the ages of one and five.
Epilepsy action provides information on the symptoms and treatment of myoclonic astatic epilepsy. Johns hopkins epilepsy center provides information on myoclonic astatic. Atypical benign partial epilepsy or pseudolennox syndrome. After the first episode of seizurelike activity, behavioral disorders and. The becoming of children with doose syndrome full text view. Apr 05, 2020 doctors do not yet know what causes doose syndrome. It is usually characterised by generalised seizures, which may vary in type and frequency. Can a child with doose syndrome control hisher behavior. It is difficult to treat because of its resistance to medication.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Historically, medical treatment of seizures in mae has been unsatisfactory, with seizure. The alternative name for the condition is myoclonic astatic epilepsy, which gives some insight as to the condition. Dravet syndrome also called severe myoclonic epilepsy in infancy this epilepsy syndrome is increasingly recognised. Download pdf page epilepsy with myoclonicatonic seizures emas was formerly known as myoclonicastatic epilepsy mae or doose syndrome. Doose syndrome is known as myoclonicastatic epilepsy mae. Here are some links im looking up now and ill post anymore i find on this thread as i find them. The spectrum ranges from complete remission and totally normal intellectual development to therapyresistant epilepsy which can result in mild to severe developmental delay. The authors describe the history of study of myoclonic astatic epilepsy, its prevalence. Children often present with atonic seizures drop attacks and they often have additional seizure types including absence seizures, myoclonic seizures, and generalized tonicclonic. Glut1 deficiency and myoclonic astatic epilepsy reassessed.
Based on these findings, a variant of epilepsy with myoclonicatonic seizures mae doose syndrome was felt possible as the underlying syndromic diagnosis, accounting for the intractability of epileptic seizures as well as for the emerging cognitive difficulties. Statistics of doose syndrome 0 people with doose syndrome have taken the sf36 survey. Successful corpus callosotomy for doose syndrome sciencedirect. 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. Sep 16, 2019 myoclonicastatic epilepsy doose syndrome this syndrome makes up 1 percent to 2 percent of epilepsy cases that start in childhood and is more common in boys than girls. Patients with doose syndrome had a median convulsive seizure frequency of 60. Help others answering the top 25 questions of doose syndrome. There is not yet any genetic blood tests that can be done to find a mutation for this epilepsy syndrome. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as. Elizabeth neal msc phd rd research dietitian, matthews friends clinics honorary research associate, ucl institute of child health doose syndrome, also known as myoclonic astatic epilepsy mae or epilepsy with myoclonicatonic seizures, is a rare type of generalised epilepsy that was first described in.
Ketogenic diet therapy can improve acthresistant west. In the 1989 classification of the international league against epilepsy ilae, 1989, mae and lgs were initially included in group 2. Introduction myoclonic astatic epilepsy mae, or doose syndrome, is a genetically heterogenous rare childhood epilepsy syndrome characterized by the onset of myoclonicatonic or atonic seizures between the ages of 6 months and 6 years in a previously normally developing child doose et al. Antons fight with epilepsy maedoose syndrome home facebook. Although this syndrome is associated with multiple types of generalized seizures, the diagnosis is based on the presence of myoclonicatonic seizures. Mae is an epilepsy syndrome of early childhood that is often resistant to medication and for this reason it is typically difficult to treat.
This page is created for our son, gavin, fighting doose syndrome epilepsy. Identifying the doose gene slc6a1 mutations in myoclonic. Epilepsy with myoclonicatonic seizures doose syndrome core. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Doose syndrome epilepsy alliance genetic and rare diseases. Panayiotopoulos syndrome is a common idiopathic childhoodspecific seizure disorder formally recognized by the international league against epilepsy. Dravet syndrome genetic and rare diseases information. Pdf atypical benign partial epilepsy or pseudolennox. Patients with the dup15q variant had a reported median convulsive seizure baseline frequency of 118. Stats doose syndrome doose syndrome map diseasemaps. Doose syndrome causes generalized seizures in young children.