The danon disease
WebOct 2, 2024 · Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years from symptom onset to death. WebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon …
The danon disease
Did you know?
WebMutations in the LAMP-2 gene are associated with Danon disease. Although dysregulation of autophagy has been described in Danon disease, the mechanisms by which LAMP-2 deficiency leads to ... WebJan 8, 2024 · 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. Most published data on this …
WebDanon disease. Other Names: Antopol disease; GSD2B (formerly); Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease …
WebDanon disease. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism (free radicals) and your body (oxidative stress). What are the symptoms of lysosomal storage diseases? Symptoms of lysosomal storage disease vary based on the: WebNov 1, 2024 · Danon disease (OMIM: 300257) is an X-linked dominant lysosomal storage disease characterized by the triad of cardiomyopathy, myopathy, and mental retardation [1]. The causative gene is lysosome-associated membrane protein-2 ( LAMP-2 ), which plays an important role in autophagosome-lysosome fusion in autophagy [2].
WebDanon Disease is a rare, genetically inherited disease that affects the muscles and multiple organ systems throughout the body. It arises from a defect in the gene, LAMP2, which is …
WebDanon disease is a rare X-linked dominant disorder caused by the lysosome- associated membrane protein 2 (LAMP2) gene. It is characterized by the triad of hypertrophic cardiomyopathy (HCM), myopathy, and intellectual disability. Genetic analysis was performed to confirm LAMP2 gene mutation in a family with Danon disease. jerace polistenaWebThe first description of Danon Disease was in 1981 when 2 boys with heart and skeletal muscle disease (muscle weakness) and mental retardation were described. The disease is named after Dr. Danon who first wrote about the disease. Danon Disease looked initially like another rare genetic condition called 'Pompe' disease. ... jera ciituWebJan 8, 2024 · 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. laman kemdikbudWebNM_002294.3(LAMP2):c.928+3A>G AND Danon disease Clinical significance: Conflicting interpretations of pathogenicity, Pathogenic(1); Uncertain significance(1) (Last evaluated: Aug 9, 2024) Review status: jerace scuolaWebSep 6, 2024 · Danon disease is an X-linked dominant cause of debilitating cardioskeletal myopathy and is a lysosomal storage disorder. Epidemiology Although considered rare, the exact incidence is unknown 1. Clinical presentation Danon disease is characterized by the triad of 1-4: cardiomyopathy the most prominent clinical feature, and may be an isolated … laman kemendikbudWebAbout 30 million people in the U.S. are affected by a rare disease. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be flooded with a wide range of emotions. Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. GARD recognizes coping with a rare disease ... jeraciWebDanon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles … laman kenanga nilai impian