The danon disease
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]. WebNov 24, 2024 · Danon disease usually manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. [ 4, 5, 6] The skeletal myopathy and intellectual disability are less...
The danon disease
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Web2 hours ago · Besides its collaborations with AbbVie and Novartis, it is working with Rocket Pharmaceuticals on a therapy for Danon Disease, a metabolic condition that can lead to the weakening of certain ... http://danondisease.org/id2.html
WebMar 23, 2024 · Danon disease (DD) is a rare X-chromosome–linked dominant lysosomal glycogen storage disease. Its features have seldom been reported by using cardiac MRI. This case series aimed to evaluate cardiac features of DD on the basis of MRI observations from five centers in China. From January 2010 to May 2024, 16 patients with DD (13 male …
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 characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles …
WebDanon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 ( LAMP 2) gene, which leads to the formation of autophagic vacuoles containing glycogen granule deposits in ...
WebThis is an X-linked dominant disorder caused by mutations in LAMP2 (Xp24). Females are generally less severely affected than males. Most men with Danon disease have some intellectual disability as well as skeletal myopathy but these features are found in less than half of affected women. Treatment good luck on your new job funnyWebDanon disease. Other Names: Antopol disease; GSD2B (formerly); Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease … good luck party invitationsWebDanon 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 disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. good luck out there gifWebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon … good luck on your next adventure memeWebJan 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. good luck on your test clip artWebDanon 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: goodluck power solutionWebMar 5, 2024 · Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Formal … good luck on your medical procedure