Article (Scientific journals)
Dystonie de type 12 : un diagnostic rare et difficile.
LEROY, Patricia; Meyer, François; Vaessen, S. et al.
2017In Archives de Pédiatrie, 24 (7), p. 637-639
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Abstract :
[en] We report a case of dystonia 12, also called rapid-onset dystonia-parkinsonism, which occurred in a young 12-year-old boy. Type 12 dystonia is a genetic syndrome characterized by a pathogenic mutation on ATP1A3 gene encoding the subunit alpha 3 of Na-K-ATPase protein, resulting in neuronal dysfunctions. It remains a rare syndrome with less than 100 cases described in the literature. Its atypical presentation and its rarity may lead to a wandering diagnosis, even in some cases to a conversion hysteria diagnosis. Today, unfortunately, there is no effective treatment.
Disciplines :
Pediatrics
Neurology
Author, co-author :
LEROY, Patricia ;  Centre Hospitalier Universitaire de Liège - CHU > Service de pédiatrie (CHR)
Meyer, François  ;  Université de Liège - ULiège > CRC In vivo Imaging-Aging & Memory
Vaessen, S.
Doummar, D.
Misson, Jean-Paul ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
Language :
French
Title :
Dystonie de type 12 : un diagnostic rare et difficile.
Alternative titles :
[en] Dystonia 12: A rare and difficult diagnosis
Publication date :
July 2017
Journal title :
Archives de Pédiatrie
ISSN :
0929-693X
eISSN :
1769-664X
Publisher :
Elsevier Masson, France
Volume :
24
Issue :
7
Pages :
637-639
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2017 Elsevier Masson SAS. All rights reserved.
Available on ORBi :
since 08 February 2018

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