Danon disease is a rare genetic disorder that affects multiple organs in the body. It is characterized by the accumulation of a protein called lysosome-associated membrane protein 2 (LAMP2) in various tissues, including the heart, skeletal muscles, and brain.
The prevalence of Danon disease is estimated to be very low, with only a few hundred cases reported worldwide. Due to its rarity, it is considered an orphan disease. The exact prevalence is difficult to determine accurately as many cases may go undiagnosed or misdiagnosed.
Danon disease primarily affects males, although there have been a few reported cases in females. It typically manifests in childhood or adolescence, with symptoms varying in severity. Common symptoms include cardiomyopathy (enlarged heart), muscle weakness, intellectual disability, and visual impairments.
Early diagnosis and management of Danon disease are crucial for improving outcomes and quality of life for affected individuals. Genetic testing and clinical evaluation are essential for accurate diagnosis.
Research efforts are ongoing to better understand the prevalence, underlying mechanisms, and potential treatments for Danon disease.