Danon disease
X-linked dominant
Hypertrophic cardiomyopathy, heart rhythm problems including Wolff-Parkinson-White pattern, muscle weakness, intellectual disability and retinal changes; affected males usually develop severe heart disease in adolescence or early adulthood, and females later.
What a diagnosis changes
Close cardiac surveillance, defibrillator implantation and early heart transplant evaluation are often needed, and family members can be tested.
Genes analysed
Also known as
ANTOPOL disease; Danon disease, X-linked dominant; glycogen storage cardiomyopathy; glycogen storage disease limited to the heart; glycogen storage disease type 2b (formerly); glycogen storage disease type IIb; glycogenosis due to LAMP-2 deficiency; GSD due to LAMP-2 deficiency; GSD IIb; GSD2B (formerly); LAMP2 lysosomal glycogen storage disease; lysosomal glycogen storage disease caused by mutation in LAMP2; lysosomal glycogen storage disease with normal acid maltase activity; lysosomal glycogen storage disease without acid maltase deficiency; lysosomal glycogen storage disease without acid maltase deficiency (formerly); vacuolar cardiomyopathy and myopathy X-linked; X-linked vacuolar cardiomyopathy and myopathy
