Danon Disease: Causes & Outlook - Cleveland Clinic
2024年2月22日 · Danon disease typically involves one of two types of cardiomyopathy. They are: Hypertrophic cardiomyopathy (most common overall). Dilated cardiomyopathy (more common among those AFAB). What causes Danon disease? Danon disease occurs due to changes (mutations) in a specific gene called LAMP2.
Danon disease - Wikipedia
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. [2] It is inherited in an X-linked dominant pattern. [1]
Danon Disease - Symptoms, Causes, Treatment | NORD
2023年2月9日 · Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than females.
Danon Disease - StatPearls - NCBI Bookshelf
2023年7月24日 · 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 caused by genetic mutations in the lysosome-associated membrane 2 (LAMP2) gene, with most mutations leading to an absence of LAMP2 protein.
Danon disease - MedlinePlus
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 disabilities. People with Danon disease may develop the condition at different ages.
Danon Disease - GeneReviews® - NCBI Bookshelf
2020年3月5日 · Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females.
Understanding Danon Disease
Danon Disease is a rare, genetic condition characterized by a mutation or deletion of the LAMP2 (short for lysosome-associated membrane protein) gene located on the X chromosome. It can be either inherited from a parent with the condition or a new genetic change (‘de novo’).
Danon Disease: Clinical Features, Evaluation, and Management
Danon disease is an X-linked dominant skeletal and cardiac muscle disorder with multisystem clinical manifestations.
Danon Foundation
Danon 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 toxic materials in the body's cells, which can cause health issues with the heart, muscles and brain cells. "Our normal is different than someone else’s normal"
Danon disease - National Organization for Rare Disorders
Danon disease is a rare genetic condition characterized by weakening of the heart muscle ( cardiomyopathy ), weakening of the muscles used for movement (skeletal muscles myopathy), and intellectual disability . [11846] [11847] This condition is a type of lysosomal storage disorder. [2169] Lysosomes are compartments within the cell that use enzym...