Danon disease is a muscular glycogenosis with a preferential cardiac tropism and is due to deleterious anomalies in the LAMP2 gene encoding a lysosomal enzyme:
- Skeletal muscle damage is possible, as is damage to the central nervous system (intellectual deficit) and/or retinopathy,
- International specialists in this rare disease have drawn up a consensus best practice guide for diagnosis and management, the first of which involves a study of the LAMP2 gene.
They stress the importance of managing heart failure, which can lead to a successful heart transplant in 87% of cases, and the encouraging prospects for gene therapy, including in humans.
