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Myoclonic-Astatic Epilepsy

Epilepsy Petit Mal Myoclonic Astatic

Myoclonic-astatic epilepsy, also known as Doose syndrome, is a type of idiopathic childhood epilepsy presenting with astatic as well as myoclonic component. It presents in children with previously normal development but can cause some degree of mental disturbance later in life.


Presentation

Myoclonic-astatic epilepsy (MAE) consists of both myoclonic and astatic components. This disease can be accompanied by other types of seizures, such as absence, complex partial and generalized tonic-clonic or be atypical in presentation [1]. On more rare occasions, a diagnosed syndromic epilepsy can precede another kind as in the example provided by Auvin et al., who described a case of a young male suffering from myoclonic-astatic epilepsy successive of myoclonic epilepsy. Auvin et al. also described an MAE presenting before juvenile myoclonic epilepsy [2]. Episodes of seizures in MAE are documented to be triggered by physical stimuli, including tactile or acoustic provocation in early presentation [3].

Myoclonic seizures are characterized by brief jolting motions in muscles of axial skeleton and extremities. Likewise, more indistinct seizures appear as small twitches or incoherent sounds. If extremity muscles are affected, the person falls as if thrown on the ground but most commonly afflicted person regains equilibrium and avoids serious injury [4].

Astatic seizures, on the other hand, are manifested by a short loss of tone e.g. may cause the person to appear nodding. This type of seizure typically supersedes a myoclonic one. Late manifestations in addition to previously described include tonic vibrations as well as axial tonic seizures. In negative dynamics of the disease, seizures become more frequent and exhibit in the mornings amid sleep. Moreover, a risk of status epilepticus, absence seizure is possible subsequent to MAE episodes [4].

Mental development in affected children ranges from normal to profound mental retardation [5] [6]. Some behavioral issues bear similarity to autism spectrum disorders presenting as defective social interaction skills, lack of sympathy, tendency to be uncompromising and have a short extent of interests. Children with MAE also exhibit problems with depression, attention span, and aggressive behavior, although the latter is thought to be found less often [7].

Falling
  • Atonic drop attacks appear to be a common cause of ictal epileptic falling in MAEE.[ncbi.nlm.nih.gov]
  • Myoclonic seizures, involving mainly the axial muscles were classified into those with mild intensity not sufficient to cause the patients to fall (n 10) and those that are stronger and sufficient to cause astatic falling due to flexion of the waist or[ncbi.nlm.nih.gov]
  • The patient was a 12-year-old female who developed myoclonic and astatic seizures including nodding and sudden falling at the age of 4.[ncbi.nlm.nih.gov]
  • They must be distinguished from other syndromes with frequent brief attacks and repeated falls, especially the Lennox-Gastaut syndrome. This differentiation is often difficult and may require extensive neurophysiologic studies.[ncbi.nlm.nih.gov]
  • Both of these words mean ‘loss of tone’ which causes the person to fall to the ground.[epilepsy.org.uk]
Persistent Vomiting
  • Five of our patients discontinued the ketogenic diet in less than 3 months (four because of lack of effectiveness and one because of persistent vomiting).[ncbi.nlm.nih.gov]
Short Attention Span
  • Hyperkinesia, short attention span and emotional lability were the most frequent complaints.[ncbi.nlm.nih.gov]
Drop Attacks
  • Atonic drop attacks appear to be a common cause of ictal epileptic falling in MAEE.[ncbi.nlm.nih.gov]
  • RUF seemed particularly effective in the prevention of myoclonic-astatic seizures (comparable with drop attacks in Lennox-Gastaut-Syndrome, for which RUF is particularly effective). Some loss of efficacy was noticed in the long-term observation.[ncbi.nlm.nih.gov]
  • attacks during daytime (except for some rare cases with a most unfavourable course); generalized EEG patterns (spikes and waves, photosensitivity, 4-7/sec rhythms), no multifocal EEG abnormalities (but often pseudofoci).[ncbi.nlm.nih.gov]
  • […] my·o·clon·ic a·stat·ic ep·i·lep·sy a petit mal variant characterized by atonic (drop attacks) and tonic or tonic-clonic attacks in neurologically disabled for example, hemiplegic, ataxic children with mental retardation; characterized in EEG by 2-second[medical-dictionary.thefreedictionary.com]
  • In addition to myoclonic-astatic seizures patients had myoclonic seizures (66.7%), drop attacks (72.2%), head drops (77.8%) absences (88.9%), tonic-clonic generalized seizure (77.8%), tonic seizures (38.9%), non-convulsive status epilepticus (16.7%).[ncbi.nlm.nih.gov]
Myoclonic Jerking
  • The involvement of these structures might predispose to the typical seizure semiology of myoclonic jerks observed in MAE.[ncbi.nlm.nih.gov]
  • Temporal relationships between electroencephalographic (EEG) and electromyographic activity were studied by analyzing latencies of EEG activity related to the onset of single myoclonic jerks, by using burst-locked EEG averaging where necessary.[ncbi.nlm.nih.gov]
  • Clinical manifestations Myoclonic-astatic seizures are the defining symptoms (100%), manifesting with symmetrical myoclonic jerks immediately followed by loss of muscle tone (atonic component).[epilepsy.com]
  • Myoclonic and astatic seizures, when they come in series, are frequently accompanied by absences that are often combined with myoclonic jerks.[neupsykey.com]
  • Myoclonic-astatic seizures occurred in all patients, tonic-clonic in 76.5{\%}; absences in 82.3{\%}, myoclonic jerks in 64.7{\%}, tonic seizures in 35. 3{\%}. 11.8{\%} had a Minor Motor Status.[moh-it.pure.elsevier.com]
Dizziness
  • Common side effects may include dizziness, drowsiness, and fatigue.[stlukes-stl.com]
  • We went home with a prescription for Keppra, while Nora was dizzy and disoriented from the initial high dose. After 3 unexplained seizures in 3 weeks, Nora got an appointment with Dr.[blogs.oregonstate.edu]
Profound Mental Retardation
  • MAE prognosis vary from spontaneous remission to intractable seizures with profound mental retardation. AIM: Identifying early risk factors may optimize the treatment of children with MAE.[ncbi.nlm.nih.gov]
  • Mental development in affected children ranges from normal to profound mental retardation.[symptoma.com]
Slurred Speech
  • The child is unresponsive, drools, has slurred speech, or is even aphasic. This status may continue for days if not interrupted by adequate means. Electroencephalogram Background activity is of special interest in MAE.[neupsykey.com]
  • The most common side effects of phenytoin include problems with walking and coordination, slurred speech, confusion, dizziness, trouble sleeping, and tremor.[stlukes-stl.com]

Workup

Myoclonic-astatic epilepsy (MAE) can be diagnosed by findings on electroencephalogram (EEG). In early stages of the disease EEG can appear normal but after advancement of MAE, some findings may be exhibited. These results include short flares of spikes or waves in 2-5 Hz frequency which are combined with polyspikes and wave complexes. Interestingly, a study proposed that the second component of the spike-wave tends to be more positive, correlating to the severity of the seizure [8]. Furthermore, data of spike-wave complexes ranging in frequency 4-7 Hz tend to accompany photosensitivity. Parietal theta and background slowing are also present in EEG. A conglomeration of spike-waves and background slowing can exist after seizure episodes and occur in the time of sleep with no clinical manifestations or disturbances in the sleep cycle. Additionally, occipital activity at 4 Hz can be established, it is typical for such finding to be depressed after the opening of the eyes [4].

EEG in combination with functional magnetic resonance imaging (fMRI) can detect generalized spike and wave (GSW) signals that are associated with blood oxygen level dependent (BOLD) signal changes. Such signals are sought in the thalamus, cerebellum, premotor cortex, and in the putamen. Likewise, deactivation areas can be found in default mode network [9].

International league against epilepsy (ILAE) developed criteria to identify MAE [4]. These are:

  1. Unremarkable cerebral, behavioral and physical development before the onset of seizures;
  2. An encounter of myoclonic, myoclonic-astatic, astatic seizures during the developmental period of 7 months to 6 years;
  3. EEG findings of generalized spikes or polyspike-wave discharges at 2-3 Hz with an absence of focal spikes;
  4. Exclusion of other syndromes, specifically, cryptogenic Lennox-Gastaut syndrome, benign or severe myoclonic epilepsy.

Nevertheless, MAE is purely an electroclinical diagnosis as there is an absence of diagnostic tests.

Hypsarrhythmia
  • Infantile spasms (West syndrome) West syndrome usually occurs in the first year of life and consists of the triad of infantile spasms, developmental deterioration, and a hypsarrhythmia pattern on EEG.[emedicine.medscape.com]
  • The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. Brain Dev. 1999;21(2):129-31.Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S.[malattierare.regione.veneto.it]
  • West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves).[epilepsywarriors.org]
  • West Syndrome Edit This is a triad of developmental delay, seizures termed infantile spasms, and EEG demonstrating a pattern termed hypsarrhythmia. Onset occurs between 3 months and 2 years, with peak onset between 8-9 months.[house.wikia.com]
  • Effect of ACTH therapy for epileptic spasms without hypsarrhythmia. Epilepsia 46(5):709-15, 2005. Yanagaki S, Oguni H, Yoshii K, Hayashi K, Imai K, Funatsuka M, Osawa M.[twmu.ac.jp]
Spike-and-Slow-Waves
  • EEG showed long sequences of generalised irregular spike and slow waves.[ncbi.nlm.nih.gov]
  • The interictal EEG revealed frequent bursts of generalized 100-200 μV, 2-4 Hz spike-and-slow-wave complexes. Despite a general favorable outcome, more severe epilepsy syndromes may develop after MEI, and mental retardation is sometimes observed.[ncbi.nlm.nih.gov]
  • . • EEG shows frequent generalized discharges of spike/polyspike-slow wave at varying frequencies of 2.5 to 3 Hz or higher. • Differential diagnosis is often demanding and requires exclusion of structural epilepsies and epileptic encephalopathies that[medlink.com]
Multifocal Spikes
  • spikes; PHT, phenytoin; PSW, diffuse polyspike and wave complexes; SBA, slowing of background activity consisting mainly of theta rhythm; SW, diffuse spike and wave complexes T, tonic seizure; TC: tonic-clonic seizure; VPA, valproic acid; ZNS, zonisamide[omicsonline.org]

Treatment

  • Little is known about the use of newer antiepileptic treatments (AET) in MAE. The purpose of this study was to describe the characteristics, treatment, and outcome of a contemporary MAE cohort exposed to the new generation AET.[ncbi.nlm.nih.gov]
  • A total observation period of 32 weeks was defined: 8-week 'pre LTG treatment phase' (before starting with LTG), 16-week 'titration phase' (starting with very low LTG doses), 8-week 'follow-up phase'.[ncbi.nlm.nih.gov]
  • At the time the clinical manifestations appear, drug treatment, even if effective, would have only limited impact on cognitive outcome.[ncbi.nlm.nih.gov]
  • All patients were given follow-up observations/treatments by our department for at least 2 years after MAE onset.[ncbi.nlm.nih.gov]
  • The most effective treatment reported to date appears to be the ketogenic diet. Prognosis is quite varied in this disorder; however, many children can have a remarkably normal neurodevelopmental outcome.[doi.org]

Prognosis

  • CONCLUSIONS: MAE onset in patients with refractory seizures occurs earlier than in those with favorable prognosis. Prognosis was excellent when EEG findings show no focal spike discharges.[ncbi.nlm.nih.gov]
  • Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. Brain Dev. 2014 Aug;36(7):613-9. MAE onset in patients with refractory seizures occurs earlier than in those with favorable prognosis.[pediatricfocus.wordpress.com]
  • Inoue T, Ihara Y, Tomonoh Y et al (2013) Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. Brain Dev Google Scholar 14.[doi.org]
  • At initial examination the high probability of a favourable prognosis may be anticipated in children with normal development before seizure onset, lack of gross brain pathology and with strong indications (family history and/or EEG criteria) for a genetic[ncbi.nlm.nih.gov]
  • METHODS: We retrospectively investigated the clinical characteristics and ultimate prognosis of the patients with MAE from the medical records.[ncbi.nlm.nih.gov]

Etiology

  • Abstract The majority of severe epileptic encephalopathies of early childhood are symptomatic where a clear etiology is apparent.[ncbi.nlm.nih.gov]
  • Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. bergqvist@email.chop.edu Abstract Myoclonic astatic epilepsy (MAE) is a rare childhood generalized epilepsy syndrome of unknown incidence and etiology[ncbi.nlm.nih.gov]
  • […] features of MAE from updated studies that will allow its distinction from other overlap epilepsy syndromes, review the evidence of genetic influences and clues for genetic heterogeneity, and discuss strategies that may be helpful in elucidating the etiology[ncbi.nlm.nih.gov]
  • Purpose: Myoclonic-astatic epilepsy (MAE) is a generalized epileptic syndrome of childhood with an unknown etiology with a variable evolution.[moh-it.pure.elsevier.com]
  • The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes.[books.google.com]

Epidemiology

  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.com]
  • Summary Epidemiology The incidence is approximately 1/10,000 children. Boys are more frequently affected than girls. Clinical description In 94% of cases, onset occurs during the first 5 years of life, most commonly between the ages of 3-4 years.[orpha.net]
  • Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments.[books.google.ro]
  • [Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy.[malattierare.regione.veneto.it]
Sex distribution
Age distribution

Pathophysiology

  • To study the pathophysiologic mechanism of astatic seizures in a patient with myoclonic astatic epilepsy of early childhood, ictal magnetoencephalography was recorded and the neuronal pathway involved was analyzed.[ncbi.nlm.nih.gov]
  • The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown...[readbyqxmd.com]
  • Pathophysiology Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. These discharges arise from hyperexcitable neuronal networks.[emedicine.medscape.com]
  • In this article, the author details the clinical manifestations, pathophysiology, EEG, and optimal management of patients with myoclonic-atonic seizures.[medlink.com]
  • Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome.[malattierare.regione.veneto.it]

Prevention

  • RUF seemed particularly effective in the prevention of myoclonic-astatic seizures (comparable with drop attacks in Lennox-Gastaut-Syndrome, for which RUF is particularly effective). Some loss of efficacy was noticed in the long-term observation.[ncbi.nlm.nih.gov]
  • The prognosis of Lennox-Gastaut Syndrome is generally guarded Please find comprehensive information on Lennox-Gastaut Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention,[dovemed.com]
  • Medication Any number of medications may be used to both prevent and treat seizures. Generally after three medications are tried, different treatment should be considered.[ipfs.io]
  • Any number of medications may be used to both prevent and treat seizures. Generally after three medications are tried, different treatment should be considered.[en.wikipedia.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]

References

Article

  1. Babu SS, Peter CS, Mogadati S, Joseph PM, Reddy N, Gupta P.Three siblings with multiform seizures: An unusual presentation of Doose syndrome. Natl Med J India. 2014;27:314–15.
  2. Auvin S, Lamblin MD, Cuvellier JC, Valle L. A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. Seizure. 2012;21:300–303.
  3. Dragoumi P, Chivers F, Brady M, et al. Epilepsy with myoclonic–atonic seizures (Doose syndrome): When video-EEG polygraphy holds the key to syndrome diagnosis. Epilepsy Behav Case Rep. 2016;5:31-33.
  4. Kelley SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol. 2010 Nov;52(11):988-93.
  5. Stephani U. The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox–Gastaut syndrome. Epilepsia. 2006;47(2):53–5.
  6. Inoue T, Ihara Y, Tomonoh Y, et al. Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. Brain Dev. 2014 Aug;36(7):613-9.
  7. Trivisano M, Specchio N, Cappelletti S, et al. Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. Epilepsy Res. 2011;97:133-141.
  8. Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions of the nosology of the syndrome. Brain Dev 2001;23:757–64.
  9. Moeller F, Groening K, Moehring J. EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). Apr. 2014; 82(17):1508-1513.

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Last updated: 2019-07-11 20:25