Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy is a syndrome classically characterized by (1) slowly progressive muscle weakness and wasting in a scapulo-humeroperoneal distribution, (2) early contractures of the elbows, ankles, and posterior neck, and (3) dilated cardiomyopathy with conduction defects. It can be inherited in an X-lined or autosomal manner and result from mutations in several different genes. Variations in the classical phenotype can occur as a result of mutations in the causative genes.
May. 21, 2021