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 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.