A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis.
A 38-year-old woman, a product of consanguineous parents, had been observed to have limited neck flexion and elbow joints contracture since early childhood. In addition, she experienced humeropelvic muscular weakness and atrophy, so that she was unable to walk by age 27. At 34 years of age, she required a permanent pacemaker to treat complete atrioventricular block with ventricular bradycardia. A myocardial biopsy confirmed cardiomyopathy. The clinical features of the present case are similar to those of the Emery-Dreifuss syndrome; however, this case may be inherited through an autosomal recessive trait.
D000328:Adult; D003286:Contracture / Q000235:genetics*; D005260:Female; D006325:Heart Atria; D006801:Humans; D006811:Humerus; D007592:Joint Diseases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D010388:Pelvis