Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history |
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| Authors: | M.C.F. Gerrits E.M.J. Foncke J.H.T.M. Koelman M.A.J. Tijssen |
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| Affiliation: | 1. Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland;2. Institute of Mother and Child, Clinic of Neurology of Child and Adolescents, Warsaw, Poland;3. Institute of Mother and Child, Department of Diagnostic Imaging, Warsaw, Poland |
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| 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 ?-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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