2024 The danon disease

The danon disease

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August undefined, 2024

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 is an extremely rare disorder. As a result, the exact prevalence is currently unknown. It is believed to affect all ethnicities equally. Although Danon Disease affects both males and females, the symptoms are more profound in males because it is inherited through the X chromosome.

Danon Disease Boston Children

WebAug 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. WebDanon 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 … tab and lyrics to shelter from the storm

Danon Disease Hereditary Ocular Diseases - University of Arizona

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]. 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 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 tab and lyrics to highway to hell

Danon Disease Clinical Presentation: History, Physical, Causes - Medscape

The danon disease

FDA unexpectedly grounds a gene therapy for a rare heart disease

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 … WebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying …

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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

WebDanon disease. Other Names: Antopol disease; GSD2B (formerly); Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease … 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 ...

WebAug 1, 2024 · Danon's disease is a hereditary disorder characterized by cardiomyopathy (wasting of the heart muscle), skeletal muscle myopathy (deterioration of the muscles … 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 …

WebNM_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:

WebDanon Disease is a rare, inherited disorder that affects many organ systems in the body. Danon Disease affects males more frequently than females. Untreated, the condition is fatal. Among males, the condition often results in a defective heart, weakening of muscles in the body, and mild to severe intellectual disabilities. A heart transplant is ... tab and notch combo cookware setWebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon … tab and notesWeb2 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 … tab and playWebDanon 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 … tab and shiftWebDanon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The … tab and shift+tabWebDanon disease is a rare genetic condition characterized by weakening of the heart muscle (cardiomyopathy), weakening of the muscles used for movement (skeletal muscles … tab and shift tabWebDanon 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. tab and slot clearance