title: Emery-Dreifuss syndrome.
abstract: Emery-Dreifuss syndrome is a heterogeneous entity characterized by the following clinical triad: early contracture of the elbows. Achilles tendons and postcervical muscles; slowly progressive muscle wasting and weakness with a humeroperoneal distribution early in the course of disease; and a cardiomyopathy usually presenting as an atrioventricular block ranging from sinus bradycardia to complete heart block. As the heart block is the major problem, insertion of a cardiac pacemaker can be life saving. Recent advances through genetic and immunochemical studies have provided valuable clues to the understanding and the early diagnosis of this disease.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan. tsuchiya@ncnaxp.ncnp.go.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuchiya
authors.forename: K
authors.initials: K
authors.lastname: Arahata
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D003286:Contracture / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006327:Heart Block / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013946:Thymopoietins / Q000235:genetics*; D014960:X Chromosome
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin