Case Reports
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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- PMID: 18571946
- DOI: 10.1016/j.ejpn.2008.03.007
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Case Reports
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history
Eur J Paediatr Neurol.
2009 Mar.
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.
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