Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern. Symptoms and signs
Males
In males the symptoms of Danon Disease are more severe. Features of Danon Disease in males are:
An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence)
Some learning problems or intellectual disability can be present
Muscle weakness can be severe and can affect endurance and the ability to walk
Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. It usually progress to heart failure, commonly complicated by atrial fibrillation and embolic strokes with severe neurological disability, leading to death unless heart transplant is performed. Cardiac conduction abnormalities can occur. Wolff-Parkinson-White syndrome is a common conduction pattern in Danon disease. Symptoms are usually gradually progressive
Some individuals may have visual disturbances, and/or retinal pigment abnormalities
Danon Disease is rare and unfamiliar to most physicians. It can be mistaken for other forms of heart disease and/or muscular dystrophies, including Pompe disease.Females
In females the symptoms of Danon Disease are less severe. Common symptoms of Danon Disease in females are:
A later age of onset of symptoms. Many females will not have obvious symptoms until late adolescence or even adulthood. Learning problems and intellectual disability are usually absent. Muscle weakness is often absent or subtle. Some females will tire easily with exercise
Cardiomyopathy is often absent in childhood.
Cancer prevention
High-molecular-weight macrogol (e.g., 8000 g/mol) has been shown to be a dietary preventive agent against colorectal cancer in animal models. The Chemoprevention Database shows macrogol is the most effective known agent for the suppression of chemical carcinogenesis in rats. Cancer prevention applications in humans, however, have not yet been tested in clinical trials. Other
Macrogol is also used to fuse B-cells with myeloma cells in monoclonal antibody production. References
External links
"Macrogol". Drug Information Portal. U.S. National Library of Medicine.