WebThe first description of Danon Disease was in 1981 when 2 boys with heart and skeletal muscle disease (muscle weakness) and mental retardation were described. The disease is named after Dr. Danon who first wrote about the disease. Danon Disease looked initially like another rare genetic condition called 'Pompe' disease. ... WebMutations in the LAMP-2 gene are associated with Danon disease. Although dysregulation of autophagy has been described in Danon disease, the mechanisms by which LAMP-2 deficiency leads to ...

NM_002294.3(LAMP2):c.928+3A>G AND Danon disease

WebJan 8, 2024 · Danon disease is a rare X-linked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. It is … WebDanon Disease is a rare, genetic condition resulting from a genetic mutation or deletion on the X chromosome. It is a type of lysosomal storage disorder that causes the build-up of … hotels near banaswadi bangalore

Danon Disease Boston Children

WebDanon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the … Wolff-Parkinson-White (WPW) syndrome is a condition in which there is an extra e… WebDanon Disease is a rare, inherited disorder that affects many organ systems in the body. Danon Disease affects males more frequently than females. Untreated, the condition is fatal. Among males, the condition often results in a defective heart, weakening of muscles in the body, and mild to severe intellectual disabilities. A heart transplant is ... WebDanon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Formal clinical diagnostic criteria for Danon disease have not been established. Suggestive Findings Males felpa nyuszi