Epilepsy with myoclonicatonic seizures genetic and rare. Communitybased study of lennoxgastaut syndrome hannu heiskala rinnekoti foundation, espoo, finland summary. Other sz types incluse absence and tonicclonic grand mal. Glut1 deficiency and myoclonic astatic epilepsy reassessed. Premature death is also possible and they could happen before the age of 10. Patient use of cannabis in epilepsy featured in three new. The natural history of myoclonic astatic epilepsy doose. Baseline video eeg showed that the child had at least 10 seizures per day while awake and asleep. An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. Children often present with atonic seizures drop attacks and they often have additional seizure types including absence seizures, myoclonic seizures, and generalized tonicclonic.
River is my 6 year old daughter who was diagnosed with myoclonic astatic epilepsy or doose syndrome. Ketogenic diet effects on 52 children with pharmacoresistant. West syndrome, dravet syndrome and doose syndrome which are epileptic syndromes observed in infancy are also classified as epileptic encephalopathies. Pdf epilepsy with myoclonic atonic seizures doose syndrome. Doose syndrome myoclonic atonic epilepsy age of onset 2 5 years of age seizure types myoclonic atonic seizure, atonic seizures, absence seizures, generalized tonic clonic associated eeg patterns biparietal theta slowing see figure, irregular generalized 23 hz spike and wave. Myoclonic seizures are not characteristic of a specific epilepsy syndrome. Dravet syndrome life expectancy, about 20% of children with dravet syndrome pass away before adulthood. You may learn a little slower, or you may find it hard to learn. However, the age of the mother may also be a risk factor. Modified atkins diet helps children with rare form of. Although variable, the general prognosis for doose syndrome typically involves some form of intellectual disability as well as resistance to medication. Po box 15224 colorado springs, co 809355224 tollfree. Jul 25, 2018 epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early childhood.
An informational guide for us healthcare professionals. 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. 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. Mae is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures idiopathic and the seizures originate. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100. Doose syndrome has the best response to kd, but due to the small number of cases, the. Cbd in epilepsy rigorous scientific data are lacking anecdotal reports and case studies are not equivalent to a clinical trial about onethird of patients have 50% reduction in seizures during shortterm followup dramatic responses seizurefree are uncommon pdf print rss. The seizures were investigated precisely by videoeeg n5, polygraph n2, and videopolygraph n23, which identified myoclonic seizures in 16 cases. May 15, 2020 doose syndrome is a form of epilepsy that typically first appears in young children.
She was diagnosed epileptic in the beginning of 20 and then was diagnosed with doose syndrome in the middle of 2014. Cbd in epilepsy rigorous scientific data are lacking anecdotal reports and case studies are not equivalent to a clinical trial about onethird of patients have 50% reduction. Epilepsy with myoclonicatonic seizures emas berg et al. Dravet syndrome also called severe myoclonic epilepsy in infancy this epilepsy syndrome is increasingly recognised. Eventually, he was diagnosed with doose syndrome myoclonic astatic epilepsy, a severe form of generalized epilepsy that is known to be medicationresistant. Before 1986, the spectrum of child hood epilepsies, including lennoxgastaut syndrome lgs and doose syndrome ds, known collectively as epilepsia myoclonica astatica, was believed to represent a single disease. Parents of children with epilepsy on cbdthc 19 children 216 yrs used a cbdenriched medical marijuana group on facebook cbd dose international league against epilepsy. Kelley sa, kossoff eh 2010 doose syndrome myoclonicastatic epilepsy. Most people with down syndrome learn things more slowly. No known cause exists for the condition, which is also known as myoclonic astatic epilepsy mae. May 02, 2018 survey and results raw data of the survey sent to neurologists in perc, aes, cns to determine how epilepsy with myoclonic atonic seizures emas, doose is evaluated and treated. Antons fight with epilepsy maedoose syndrome home facebook. Identifying the doose gene slc6a1 mutations in myoclonic.
Myoclonic astatic epilepsy doose syndrome epilepsy action. Absence seizures can happen when consciousness is lost briefly. Dravet syndrome symptoms, life expectancy and treatment. Become golden ambassador answering these questions. If you have problems viewing pdf files, download the latest version of adobe reader. Symptoms include seizures that can cause jerky body movements and potentially dangerous falls. 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.
Myoclonicastatic epilepsy of early childhoodclinical and eeg analysis of myoclonicastatic seizures, and discussions on the nosology of the syndrome. It is characterized by the development of myoclonic seizures andor myoclonic astatic seizures. Treatment with antiepileptic drugs aeds is usually ineffective. People with down syndrome often learn in different ways.
Can a child with doose syndrome control hisher behavior. It is usually characterised by generalised seizures, which may vary in type and frequency. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600. 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. Down syndrome, it is estimated that the risk of having a second child with down syndrome is about one in 100. Paolicchi, md, ma associate professor of neurology and pediatrics director, pediatric neurology director, pediatric epilepsy and eeg vanderbilt university. Learn about seizure types, diagnosis, treatment and outlook for this syndrome that mostly affects boys. Doose syndrome definition of doose syndrome by medical. 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. This page is created for our son, gavin, fighting doose syndrome epilepsy. At 12 weeks of kd treatment, the patients achieved i, ii, iii, and iv grade. 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. A child aged 4 experiencing multiple seizure types tried several medications with various and limited benefits.
Doose syndrome, otherwise traditionally known as myoclonicastatic epilepsy, was first described as a unique epilepsy syndrome by dr hermann doose in 1970. Doose syndrome epilepsy alliance genetic and rare diseases. Treatment usually involves high dose valproate in combination with other anticonvulsants. Gavins battle, doose syndrome epilepsy home facebook. Apr 16, 2015 therefore, slc6a1 is the first proper gene for doose syndrome. A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure. Doose syndrome is considered a genetic generalised epilepsy but it often acts as an epileptic. The documents contained in this web site are presented for information purposes only.
Maybe you have a great memory and do not need to write things down to remember them. Help others answering the top 25 questions of doose syndrome. These patients met the major characteristics of lennoxgastaut syndrome. The becoming of children with doose syndrome full text view. It almost always beginsin an 1850 month child who is developmentally normal until the szs begin.
It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonicclonic seizures. Delineation of cryptogenic lennoxgastaut syndrome and. Doose syndrome is likely to be genetically heterogeneous and in contrast to dravet syndrome caused by various different genes. Doose syndrome is a very complicated type of children cryptogenic refractory epilepsy ccre which is traditionally studied by analysis of complex electrencephalograms eeg by neurologists. Statistics of doose syndrome 0 people with doose syndrome have taken the sf36 survey. In some cases there may be seizures with stiffness and jerking of the whole.
Epilepsy with myoclonicatonic seizures doose syndrome. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Pdf an electroclinical epilepsy syndrome diagnosis enables. Over 300 attendees from around the world traveled to attend this comprehensive, three day meeting. Myoclonicastatic epilepsy was first described and identified in 1970 by herman doose as an epilepsy syndrome, hence its original label, doose syndrome. Find out what kinds of foods your child can eat if she takes up the ketogenic diet, and learn about the challenges and side effects of a meal plan that gets rid of seizures in some kids with epilepsy. Lennox gastaut syndrome foundation conference tracy dixon salazar the lgs foundation hosted their sixth international family and professional conference on lennoxgastaut syndrome last month in seattle, wa. Delineation of cryptogenic lennoxgastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis a.
The term severe paediatric epilepsy syndrome does not have a precise meaning. Pediatric epilepsy slide deck l i saii ea merican epilepsy. Myoclonic astatic epilepsy mae, also known as myoclonic atonic epilepsy or doose syndrome, is a generalized idiopathic epilepsy. Therefore, slc6a1 is the first proper gene for doose syndrome. Myoclonic astatic epilepsy is a perplexing epilepsy syndrome that typically presents in preschool children with a fulminant onset. 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. Angelman syndrome, complex 1 mitochondrial disease, fires, ohtahara syndrome, superrefractory status epilepticus, dravet syndrome, doose syndrome, glut1 deficiency syndrome, formula fed children, infantile spasms, pyruvate dehydrogenase deficiency, tuberous sclerosis complex. Antons page is dedicated to spreading awareness of doose syndrome and childhood epilepsy to as many people as. Dravet syndrome, doose syndrome 4, lennox gastaut syndrome 1, and idiopathic epilepsy 1. Some children outgrow it others while others deveopmentally delays bad persitant szs. The epilepsy medicines that have been most successful are sodium valproate. The worlds preeminent association of health care professionals and scientists working toward a world where no persons life is limited by epilepsy.
Doose syndrome or myoclonicastatic epilepsy is a rare syndrome accounting for one to two percent of childhood epilepsies. It begins in the first year of life and affected children are previously normal. Calling slc6a1 is the doose gene is probably overstated. Severe paediatric epilepsy syndromes epilepsy society. Treatment of myoclonicastatic epilepsy is often very difficult. Myoclonicastatic epilepsy doose syndrome pediatric focus. 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. Epilepsy with myoclonicatonic seizures is a rare epilepsy syndrome of early. 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.