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Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history
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 ε-sarcoglycan ( SGCE , DYT11 ) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's c...
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Published in: | European journal of paediatric neurology 2009-03, Vol.13 (2), p.178-180 |
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Main Authors: | , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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 ε-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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ISSN: | 1090-3798 1532-2130 |
DOI: | 10.1016/j.ejpn.2008.03.007 |