[1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.

Danon disease involves a genetic defect (mutation) in a gene called LAMP2, which results in a change to the normal protein structure.

While the function of the LAMP2 gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called lysosomes.

Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results to make a diagnosis.

[citation needed] The first case of Danon disease reported in the Middle East was a family diagnosed in the eastern region of United Arab Emirates with a new LAMP2 mutation; discovered by the Egyptian cardiologist Dr. Mahmoud Ramadan[9] the associate professor of Cardiology in Mansoura University[10] (Egypt) after doing genetic analysis for all the family members in Bergamo, Italy, where 6 males were diagnosed as Danon disease patients and 5 female were diagnosed as carriers; as published in Al-Bayan newspaper on 20 February 2016[11] making this family the largest one with patients and carriers of Danon disease.