Danon Disease

Danon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability. This condition is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by variations (mutations) in the LAMP2 gene. Danon disease is inherited in an X-linked dominant pattern. In this type of inheritance, males tend to be more severely affected than females and develop symptoms at a younger age. Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.