Danon disease

Disease Overview

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.[11846][11847] This condition is a type of lysosomal storage disorder.[2169] 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.[11846][11847][2169] 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.[11846][11847] Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.[11847]  

Synonyms

• Vacuolar cardiomyopathy and myopathy X-linked
• X-linked vacuolar cardiomyopathy and myopathy
• Antopol disease
• Pseudoglycogenosis 2
• Glycogen storage disease limited to the heart
• Glycogen storage cardiomyopathy
• Glycogen storage disease type 2b (formerly)
• Lysosomal glycogen storage disease without acid maltase deficiency (formerly)
• GSD2B (formerly)