Danon disease
X-vázaně dominantní
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.
Co se diagnózou změní
Close cardiac surveillance, defibrillator implantation and early heart transplant evaluation are often needed, and family members can be tested.
Analyzované geny
Známé také jako
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
