Catalog

Emery-Dreifuss muscular dystrophy, autosomal dominant

No MMS code

Link to WHO Definition

Emery-Dreifuss muscular dystrophy, autosomal dominant – http://id.who.int/icd/entity/15480497

Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease.