Danon Disease (DD)

Danon Disease (DD) is a rare genetic disorder that is characterized by severe and primarily hypertrophic cardiomyopathy. Skeletal muscle weakness and mild cognitive impairment are also common.  The causative mutation has been identified in the gene encoding for lysosome-associated membrane protein (LAMP2), and in particular the LAMP2B version of the gene which is primarily expressed in heart, skeletal muscle and brain tissue.  Affected cells can no longer efficiently digest and recycle protein and other materials, leading to dysfunction in heart, muscle and brain cells.