What is the treatment for Danon disease?
Cardiac transplantation is a reasonable treatment for Danon disease despite the presence of muscular problems because the neurologic disability or problems are mild.
What causes Danon disease?
Danon disease is caused by mutations in the LAMP2 gene, which contains instructions for the production of an enzyme called lysosomal associated membrane protein-2 (LAMP-2).
How many people are affected by Danon disease?
A total of 146 molecularly confirmed affected individuals (90 males and 56 females) with Danon disease have been reported in the literature and the information below summarizes the findings in these individuals [Brambatti et al 2019] and in others who did not undergo clinical genetic testing.
Who discovered Danon disease?
History. Danon disease was characterized by Moris Danon in 1981. Dr. Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual disability.
What organelle is responsible for Danon disease?
Danon disease is caused by mutations in the lysosome-associated membrane protein 2 (LAMP2) gene, usually leading to deficiency of the LAMP-2 protein (Eskelinen, 2005; Nishino et al., 2000).
Is Danon disease dominant or recessive?
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. Treatment is aimed at addressing the symptoms present in each individual and may require a team of specialists.
How does Danon disease affect organelles?
People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.
Is Danon disease recessive?
The disease is severe and characterized by low blood sugar (hypoglycemia), cardiomyopathy, congestive heart failure, and an autosomal recessive pattern of inheritance. It is sometimes referred to as glycogen storage disease of the heart, which is a descriptive term and may sometimes include Danon disease.
What are the effects of Danon disease?
Danon 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 condition earlier than females and are more severely affected.
How is the lysosome implicated in Danon disease?
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 .
