title: Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.
abstract: Emery-Dreifuss muscular dystrophy is characterized by the clinical triad of early onset contractures of elbows, Achilles tendons and spine, wasting and weakness with a predominantly humero-peroneal distribution and life-threatening cardiac conduction defects and/or cardiomyopathy. Two main types of inheritance have been described: the X-linked form is caused by mutations in the STA gene on locus Xq28 and the gene for the autosomal dominant form (LMNA gene) has been localized on chromosome 1q11-q23. Recently, mutations in this LMNA gene have been also found to be responsible for the less frequent autosomal recessive form of the disease. Although all forms share a similar clinical presentation, some differences appear to exist between them as has been described recently in a large number of patients. We present the first documented Spanish family genetically confirmed to have autosomal dominant Emery-Dreifuss muscular dystrophy. Clinical, pathological and genetic data are described. We emphasize the difficulties in diagnosis, especially in sporadic cases or young patients in whom the clinical picture is not completely established.
authors.affiliation: Servei de Neurologia, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain. colomer@hsjdbcn.org
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: C
authors.initials: C
authors.lastname: Iturriaga
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: S
authors.initials: S
authors.lastname: Manilal
authors.forename: G E
authors.initials: GE
authors.lastname: Morris
authors.forename: M
authors.initials: M
authors.lastname: Puche
authors.forename: E
authors.initials: E
authors.lastname: Fernández-Alvarez
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000293:Adolescent; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D002648:Child; D003286:Contracture / Q000235:genetics / Q000473:pathology; D004551:Elbow Joint / Q000473:pathology; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D034882:Lamins; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology*; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013131:Spine / Q000473:pathology
chemical_list: D034882:Lamins; D009687:Nuclear Proteins