pediatrics
Emery Dreifuss Dystrophy
Introduction
Emery-Dreifuss dystrophy is a muscular dystrophy with multiple modes of inheritance. In addition to weakness and muscle wasting, patients often have cardiac abnormalities that may cause sudden death. Treatment is symptomatic. Muscular dystrophies are inherited, progressive muscle disorders resulting from defects in one or more genes needed for normal muscle structure and function; dystrophic changes (eg, muscle fiber necrosis and regeneration) are seen on biopsy specimens. Emery-Dreifuss dystrophy can be inherited as an Autosomal Dominant , Genes associated with Emery-Dreifuss dystrophy encode for the following nuclear membrane proteins: Lamin A/C (autosomal) Emerin (X-linked) Nesprin-1 and nesprin-2 FHL1 LUMA SUN1 and SUN2 Titin (a sarcomere protein) 