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Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20.

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.

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1
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. mignongerrits@hotmail.com

Abstract

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history.

PMID:
18571946
DOI:
10.1016/j.ejpn.2008.03.007
[Indexed for MEDLINE]
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