Danon disease

Abstract

Danon Disease (DD) is a rare inherited X-linked lysosomal storage disease (LSD). This disease is caused by a mutation in the lysosomal-associated membrane protein type 2 gene (LAMP2, Xq24). Mutation of this gene cause skeletal and cardiac muscle problems, dysfunction of multisystem organs, and intellectual disability. As a consequence of X- chromosome inactivation, males experience dilated cardiomyopathy with atrial fibrillation. Females with one x chromosome mutation have milder clinical problems than males. Females with two mutated x chromosomes show similar clinical manifestations as males. The affected populations and prevalence of DD are unknown. Through LAMP2 genetic testing, our knowledge has increased; however, there are still no treatment options available to treat DD. This chapter summarizes the disease' classification, clinical manifestations, epidemiology, pathophysiology, diagnosis, supportive care, and future treatment.