Doose Syndrome

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The Doose syndrome , also known as myoclonic-astatic epilepsy (short MAE ) or epilepsy with myoclonic-atonic seizures called, is a clinical picture in neurology . Doose syndrome is a separate syndrome that belongs to the group of idiopathic generalized epilepsies in childhood. It was first described by the German epileptologist Rolf Kruse in 1968 and by the German child neurologist and epiletologist Hermann Doose in 1970.


Doose syndrome is a rare disease with a frequency of 2 to 4 percent of epilepsy in childhood. Boys are affected about twice as often.

Clinical characteristics and disease course

The disease usually manifests itself between the ages of 1 and 6 with epileptic seizures in the form of generalized tonic-clonic seizures, absences and / or febrile convulsions . The myoclonic and myoclonic-atonic seizures characteristic of the syndrome (atonic is a synonym for astatic) often only occur during the course of the disease. However, they are not specific to Doose Syndrome. Before the first seizures occur, the children are usually clinically normal. Initially, the seizures can occur explosively, i.e. with a very high density of seizures. The myoclonic-atonic seizures usually only last a few seconds. Those affected typically collapse in a flash due to a sudden loss of muscle tone. If they don't injure themselves in the process, they can get up right after the seizure. However, the consequence of the numerous seizures can be encephalopathy with cognitive decline.


Imaging methods for examinations of the brain such as computed tomography or magnetic resonance tomography usually show no abnormalities or only unspecific changes. The electroencephalography , the derivation of brain waves, is often still discreetly at the beginning of the disease between attacks. In the course, irregular spike-wave complexes and abnormal theta rhythms can be seen .

The diagnosis of Doose syndrome can according to the defined criteria of the 1989 anti-epileptic League be submitted to

  • The child has normal psychomotor development before the onset of epilepsy,
  • lack of brain morphological abnormalities,
  • Onset of attacks between 6 months and 6 years of age
  • electroencephalographic evidence of primarily generalized spike and poly-spike-wave activity as well as missing focal EEG changes and in
  • Exclusion of epilepsy syndromes with myoclonic seizures that can be considered for differential diagnosis . This applies in particular to the severe or benign form of myoclonic epilepsy in early childhood, to West syndrome and to Lennox-Gastaut syndrome .

In particular, distinguishing it from the more common Lennox-Gastaut syndrome can be difficult. If a patient with myoclonic-astatic seizures responds well to therapy with valproic acid , Lennox-Gastaut syndrome is unlikely.


Valproic acid and benzodiazepines are primarily used for the acute treatment of epileptic seizures in the context of Doose syndrome . Valproic acid is also the first choice therapy for seizure prophylaxis. Benzodiazepines are not a suitable therapy for long-term medication because their effect usually fades after a few weeks. If valproic acid is insufficient to prevent seizures, a combination with lamotrigine or ethosuximide is possible. The anticonvulsants phenytoin , carbamazepine , oxcarbazepine, and vigabatrin are usually not effective.


Individual evidence

  1. Andreas Hufschmidt, Michael Bär: Neurology compact: for clinic and practice. Thieme Verlag, 2009, ISBN 978-3131171955 , p. 240.
  2. R. Kruse: The Myoclonic-astatic Petit Mal . Berlin, Springer Verlag, 1968, ISBN 978-3540042808 .
  3. ^ H. Doose, H. Gerken, R. Leonhardt, E. Völzke, C. Völz: Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation. In: Neuropaediatrics. Volume 2, Number 1, August 1970, pp. 59-78, ISSN  0028-3797 . doi : 10.1055 / s-0028-1091841 . PMID 5001125 .
  4. a b P. Weber, B. Tillmann u. a .: Myoclonic-astatic epilepsy in early childhood: overview of the current state of knowledge about clinical findings, EEG features, etiology and therapy. In: Clinical Pediatrics. 214, pp. 279-284, doi : 10.1055 / s-2002-33978 .
  5. a b c d e Dieter Schmidt: Epilepsy. Diagnostics and therapy for clinics and practices Schattauer Verlag , 1997, ISBN 978-3794517893 , p. 35.
  6. a b C. Doege, R. Kleiss et al .: Myoclonic-astatic epilepsy. In: Journal of Epileptology. 27, 2014, p. 105, doi : 10.1007 / s10309-013-0357-8 .
  7. ^ A b Walter Fröscher, Franco Vassella, Andreas Hufnagel: Die Epilepsien: Basics, Clinic, Treatment , Schattauer Verlag, 2004, ISBN 978-3794521319 , p. 176.
  8. : Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. In: Epilepsia. Volume 30, Number 4, 1989 Jul-Aug, pp. 389-399, ISSN  0013-9580 . PMID 2502382 .