Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
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.
Gerrits
M C F
MC
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. mignongerrits@hotmail.com
Foncke
E M J
EM
Koelman
J H T M
JH
Tijssen
M A J
MA
D002648:Child; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009154:Mutation; D009207:Myoclonus / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D049031:Sarcoglycans / Q000235:genetics*
D049031:Sarcoglycans