The danon disease
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 … 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.
The danon disease
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WebNov 24, 2024 · Danon disease is a rare form of HCM and muscular dystrophy. [ 3] Signs and symptoms of Danon disease Danon disease usually manifests with the clinical triad of … WebDanon disease is a rare genetic disorder that affects several tissues and organ systems in the body. It is a type of lysosomal storage disease (LSD). Lysomal storage diseases occur …
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 … WebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying …
WebMar 16, 2011 · Danon disease is a rare X-linked dominant metabolic disorder initially described by Danon et al. 1 in two unrelated 16-year-old boys manifesting cardiomyopathy, skeletal myopathy, and intellectual ... WebDanon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The …
WebDanon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Formal clinical diagnostic criteria for Danon disease have not been established. Suggestive Findings Males
WebDanon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles … how to screenshot on dell optiplex 7050WebAug 1, 2024 · Danon's disease is a hereditary disorder characterized by cardiomyopathy (wasting of the heart muscle), skeletal muscle myopathy (deterioration of the muscles used for movement), and intellectual disability. The incidence of the disease is very rare and is inherited in an X-linked dominant pattern. how to screenshot on dell laptop windows 7WebSep 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 … how to screenshot on dell optiplex 7070http://danondisease.org/id2.html how to screenshot on dell snipping toolWebThis 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 … how to screenshot on dell precision 5570WebThe 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. ... how to screenshot on dell school computerWebMar 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 … how to screenshot on dell precision laptop