The most effective treatment reported to date appears to be the ketogenic diet. Myoclonic atonic epilepsy mae is also known as doose syndrome. After the first episode of seizurelike activity, behavioral disorders and. To identify neuronal networks underlying generalized spike and wave discharges gsw in myoclonic astatic epilepsy mae. As many as 60 70% can expect to eventually become seizure free either through medication or spontaneous remission.
It is difficult to treat because of its resistance to medication. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Pdf successful corpus callosotomy for doose syndrome. Other sz types incluse absence and tonicclonic grand mal. In some cases there may be seizures with stiffness and jerking of the whole. Calling slc6a1 is the doose gene is probably overstated. Antons page is dedicated to spreading awareness of doose syndrome and childhood epilepsy to. The convulsive seizure is the most common type seen in ds. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Mae frequently shows the course of an epileptic encephalopathy and may result in permanent cognitive impairment. Myoclonicastatic epilepsy was first described and identified in 1970 by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. However there are varying degrees of severity of the condition, and some children may easily respond to the first line aeds antiepileptic drugs prescribed. Stats doose syndrome doose syndrome map diseasemaps.
Mae is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures idiopathic and the seizures originate from all over the brain. 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. 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. Help others answering the top 25 questions of doose syndrome. The journal is intended to provide a forum for reporting the best and most rigorous. Doose syndrome definition of doose syndrome by medical.
Learn about seizure types, diagnosis, treatment and outlook for this syndrome that mostly affects boys. Presently, newer therapies have significantly improved prognosis but outcomes are still unpredictable and varied. On the other hand, resistance to anticonvulsants and cognitive impairment are present in doose syndrome with an unfavorable prognosis. Doose syndrome is an epilepsy syndrome of childhood, that is often resistant to medication and for this reason it is typically difficult to treat.
Myoclonic astatic epilepsy mae, doose syndrome is a difficult to treat idiopathic generalized epilepsy of early childhood. Ds is also termed as myoclonicatonic or myoclonicastatic epilepsy epilepsy because of the characteristic initial myoclonic component followed by a fall. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Children mildly affected by mae may find that their seizures are quickly and easily controlled with firstline medications. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early childhood. Ds was first described by charlotte dravet in 1978 and was found to have a genetic basis in 2001, with discovery of.
Adobe acrobat reader dc software is the free global standard for reliably viewing, printing, and commenting on pdf documents. The condition appears during the first year of life as frequent feverrelated febrile seizures. Seizures usually start between the ages of 7 months and 6 years and are hard to control because they dont respond well to medication. Atkins diet is an effective treatment for children with doose syndrome. Mae affects boys more than girls and starts in early childhood with the first seizure usually occurring between 2 to 6 years of age.
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. Development prior to seizure onset is usually normal. The ketogenic diet has been shown in many studies to be particularly helpful for some epilepsy conditions. It is a rare genetic disorder that affects an estimated 1 in every 20,00040,000 births. There are a wide range of epilepsies in which myoclonic seizures are the most prominent feature ranging from benign selflimiting epilepsies genetic or familial to severe progressive myoclonic epilepsies associated with cognitive impairment and unfavorable prognosis. The alternative name for the condition is myoclonic astatic epilepsy, which gives some insight as to the condition. Here are some links im looking up now and ill post anymore i find on this thread as i find them.
Dravet syndrome symptoms, life expectancy and treatment. Through the epilepsy foundation of northeastern new york, becky knew of another child with doose syndrome who had been treated with a highfat, very lowcarbohydrate diet called the. Seizures can be followed by drop attacks, which can lead to falls and injuries. The natural history of myoclonic astatic epilepsy doose. Doose syndrome, also known as myoclonic astatic epilepsy mae or. Epilepsy with myoclonicatonic seizures doose syndrome. The seizures can be very different, consisting of jerks myoclonic seizures, sudden falls to the ground atonic or astatic seizures, or sometimes a jerk followed by a fall myoclonicastatic seizure. Doose syndrome, also called myoclonicastatic epilepsy mae, is an epileptic condition in children that has no known cause. Children with mae who have long or clusters of seizures may need emergency medical treatment or treatment with a rescue.
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. As for the intellectual outcomes of the 81 patients, 60% showed a normal iq, 20% were borderline or had mild developmental delay, and the remaining. Epilepsy with myoclonicatonic seizures genetic and rare. In a published series of 81 patients with mae, 68% eventually became seizure free. The results from the cannabidiolenriched cannabis survey are summarized in table 1. Myoclonicastatic epilepsy doose syndrome pediatric focus. It makes up only a small percentage of the forms of epilepsy. This syndrome was otherwise known as myoclonicastatic epilepsy, and was redefined in 2010 by the international league against epilepsy as epilepsy with myoclonicatonic seizures. Here you can see if there is any natural remedy andor treatment that can help people with doose syndrome. There is not yet any genetic blood tests that can be done to find a mutation for this epilepsy syndrome. Thirteen children had dravet syndrome one of whom had epilepsy in female with mental retardation, emfr, four children had doose syndrome, and one each had lennoxgastaut syndrome and idiopathic earlyonset epilepsy.
Severe paediatric epilepsy syndromes epilepsy society. 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. There is no right answer that encompasses the whole range of children each parent in conjunction with their treating physician must therefore be part of the process where they strive for the ideal treatment for their individual child to be found. Identifying the doose gene slc6a1 mutations in myoclonic.
These include infantile spasms, rett syndrome, tuberous sclerosis complex, dravet syndrome, doose syndrome, and glut1 deficiency. Can a child with doose syndrome control hisher behavior. West syndrome, dravet syndrome and doose syndrome which are epileptic syndromes observed in infancy are also classified as epileptic encephalopathies. The ketogenic diet is the most efficacious treatment option for drugresistant myoclonicastatic epilepsy. Doose syndrome a rare familial type of primary generalized myoclonic astatic epilepsy. Charlotte dravet first described severe myoclonic epilepsy of infancy in centre saint paul, marseille france in 1978 and the name was later changed to dravet syndrome in 1989. Jul 25, 2018 epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome 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 myoclonicatonic seizures.
Kelley sa, kossoff eh 2010 doose syndrome myoclonicastatic epilepsy. The authors describe the history of study of myoclonic astatic epilepsy, its prevalence. As with most medical disorders, the spectrum of severity seen in mae ranges from mild to those more severely affected. Doose syndrome is known as myoclonicastatic epilepsy mae. Mar 23, 2015 eventually, he was diagnosed with doose syndrome myoclonic astatic epilepsy, a severe form of generalized epilepsy that is known to be medicationresistant. Doose syndrome epilepsy alliance joining forces to. Some babies with this condition are born with a cleft lip or cleft palate, and a few have been reported to have. It is usually characterized by difficulttocontrol generalized seizures, and is idiopathic no known cause in nature. Are there natural treatments that may improve the quality of life of people with doose syndrome. And now, its connected to the adobe document cloud.
About 80% of affected individuals have lossoffunction mutations in their scn1a gene. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication. Individual gswassociated blood oxygenation leveldependent bold signal changes were analyzed in every patient. Myoclonic astatic epilepsy is a perplexing epilepsy syndrome that typically presents in preschool children with a fulminant onset. She was diagnosed epileptic in the beginning of 20 and then was diagnosed with doose syndrome in the middle of 2014. Doose syndrome is an epilepsy syndrome that was first reported in 1970 as centrencephalic myoclonicastatic petit mal. Statistics of doose syndrome 0 people with doose syndrome have taken the sf36 survey. West syndrome infantile spasm 23 46 months epileptic spasms hypsarrhythmia doose syndrome myoclonic astatic epilepsy 24 1830 months focal, myoclonicatonic and myoclonic seizures 23 hz generalized spikewaves, photo paroxysmal response lennoxgastaut syndrome 25 10 day9 years tonic, atypical, myoclonic, focal, generalized tonic. Doose syndrome is considered a genetic generalised epilepsy but it often acts as an epileptic. It almost always beginsin an 1850 month child who is developmentally normal until the szs begin. Myoclonic astatic epilepsy doose syndrome a lamotrigine.
Doose syndrome is a form of childhood epilepsy with polymorphic seizure episodes including classical myoclonicastatic or myoclonicatonic seizure along with. Dravet syndrome is a severe epilepsy with many seizure types that begins in the first year of life. A group analysis was performed to determine common syndrome. Mae is an epilepsy syndrome of early childhood that is often resistant to medication and for this reason it is typically difficult to treat. Dravet syndrome is a severe form of epilepsy that is part of a group of diseases known as scn1arelated seizure disorders.
Children often present with atonic seizures drop attacks and they often have additional seizure types including absence seizures, myoclonic seizures, and generalized tonicclonic. In 1989, the international league against epilepsy allocated doose syndrome to the category of cryptogenic or symptomatic seizures and defined it as having no organic cause and associated with no other form of myoclonic epilepsy, presenting between the age of 7 months and 6 years following previously normal development, and characterized by a. It is very difficult to treat with anticonvulsant medications. Mae explained 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. Therefore, slc6a1 is the first proper gene for doose syndrome. Successful corpus callosotomy for doose syndrome sciencedirect. Epileptic syndromes of the newborn and infant alex has a severe form of epilepsy called myoclonicastatic epilepsy, known as doose syndrome, which affects only 1 percent to 2 percent of children with epilepsy and is more. Doose syndrome is likely to be genetically heterogeneous and in contrast to dravet syndrome caused by various different genes. Mae is a childhood seizure disorder that is often not easily controlled by conventional medications. Some children outgrow it others while others deveopmentally delays bad persitant szs. Doose syndrome epilepsy alliance genetic and rare diseases.
Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. See more ideas about epilepsy, essential oils and essential oil diffuser. Its the only pdf viewer that can open and interact with all types of pdf content, including. This page is created for our son, gavin, fighting doose syndrome epilepsy. Pdf doose syndrome epilepsy with myoclonicatonic seizures is an epilepsy syndrome with an incidence of approximately 12% of childhoodonset. Apr 16, 2015 therefore, slc6a1 is the first proper gene for doose syndrome. In addition to intractable seizures, affected individuals exhibit developmental delay, movement and balance abnormalities, delayed language development, sleep. Myoclonic astatic epilepsy doose syndrome epilepsy action.
Symptoms include seizures that can cause jerky body movements and potentially dangerous falls. Absence seizures can happen when consciousness is lost briefly. This raises the possibility whether a variant of epilepsy with myoclonic atonic seizures doose syndrome may be the underlying diagnosis for this girl. Doose syndrome, otherwise traditionally known as myoclonicastatic. It is usually characterised by generalised seizures, which may vary in type and frequency. For language access assistance, contact the ncats public information officer. Epilepsy research provides for publication of high quality articles in both basic and clinical epilepsy research, with a special emphasis on translational research that ultimately relates to epilepsy as a human condition. A trial of the ketogenic diet would therefore be considered as an option in her future management in view of its beneficial effect in this condition. Myoclonic seizures are not characteristic of a specific epilepsy syndrome. Symptoms may include delay reaching some developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, and a small head size microcephaly. Dravet syndrome genetic and rare diseases information. Doose syndrome epilepsy with myoclonicatonic seizures is an epilepsy syndrome with an incidence of approximately 12% of childhoodonset epilepsies. Antons page is dedicated to spreading awareness of doose syndrome and childhood epilepsy to as many people as. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonicclonic seizures.
Treatment with antiepileptic drugs aeds is usually ineffective. Systematic analyses on clinical effects of different aed combinations are still needed. Simultaneous eegfmri recordings were performed in children with mae. Modified atkins diet is an effective treatment for children with doose. If you have problems viewing pdf files, download the latest version of adobe reader. Report of a parent survey of cannabidiolenriched cannabis. 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. River is my 6 year old daughter who was diagnosed with myoclonic astatic epilepsy or doose syndrome. With frequent seizures, development slows and may regress. Mae is a syndrome with variable courses and various outcomes, meaning that the treatment each individual child responds to will also be highly variable. Using a formulaonly ketogenic diet for infants and gastrostomytube fed children may lead to better.
Myoclonicastatic epilepsy mae, or doose syndrome, is an epilepsy syndrome of early childhood that is often resistant to medication. 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. Eegfmri in myoclonic astatic epilepsy doose syndrome. It is a rare earlyonset generalized idiopathic epilepsy syndrome of childhood. It is an epilepsy syndrome of early childhood, which is resistant to medication. Eventually, he was diagnosed with doose syndrome myoclonic astatic epilepsy, a severe form of generalized epilepsy that is known to be medicationresistant. Antons fight with epilepsy maedoose syndrome home facebook. Sz free vs qol this is not yet a curable condition. Apr 05, 2020 doose syndrome is a form that affects kids between the ages of one and five. Doose syndrome is a form of epilepsy that typically first appears in young children. Anticonvulsant effects of cannabidiol in dravet syndrome. Introduction to dravet yndrome home dravet syndrome.