A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis
K. Takamoto, K. Hirose, M. Uono and I. Nonaka
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.
