Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.
Eur J Paediatr Neurol
; 13(2): 178-80, 2009 Mar.
Article
en En
| MEDLINE
| ID: mdl-18571946
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastornos Distónicos
/
Sarcoglicanos
/
Mioclonía
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Países Bajos
Pais de publicación:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM