title: [Emery-Dreifuss muscular dystrophy: case report].
abstract: Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-Linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. We describe the case of a young male, aged 16, with first-degree atrioventricular (AV) block and limited extension of both forearms. He had elevated CK, and cardiac monitoring showed severe conduction tissue disease, with significant sinus pauses, chronotropic incompetence and periods of AV dissociation during exercise. Immunohistochemical staining using an emerin antibody showed absence of the protein in a fragment of muscle tissue and genetic study identified a mutation associated with EDMD1. Study of his brother, aged 21, also established a diagnosis of EDMD1. Both individuals received a permanent pacemaker but musculoskeletal manifestations at that time did not warrant any other intervention: Screening for certain genetic diseases, including muscular dystrophies, is mandatory following identification of conduction abnormalities in young people.
authors.affiliation: Serviço de Cardiologia, Hospitais da Universidade de Coimbra, Coimbra, Portugal. saraiva.fatima@gmail.com
authors.forename: Fatima
authors.initials: F
authors.lastname: Saraiva
authors.forename: Dina
authors.initials: D
authors.lastname: Rodrigues
authors.forename: Helena
authors.initials: H
authors.lastname: Andrade
authors.forename: Luís
authors.initials: L
authors.lastname: Negrão
authors.forename: Lino
authors.initials: L
authors.lastname: Gonçalves
authors.forename: António
authors.initials: A
authors.lastname: Marinho
authors.forename: Luís A
authors.initials: LA
authors.lastname: Providência
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis