The danon 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 … 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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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 ... 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 …
WebDanon disease. There are many mutations in the LAMP2 gene that can cause Danon disease. Danon disease is a condition characterized by weakening of the heart muscle … 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 …
WebDanon disease (previously known as GSD IIb, or pseudo Pompe disease with normal GAA activity) is an X-linked recessive lysosomal glycogen storage disease caused by mutations in the lysosomal-associated membrane protein 2 or LAMP2 gene (OMIM 309060) located at chromosomal position Xq24. WebThe 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. ...
WebAbout 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 ...
WebDanon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The … svga port projectorWebNM_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: svga projector for gamingWebDanon disease (previously known as GSD IIb, or pseudo Pompe disease with normal GAA activity) is an X-linked recessive lysosomal glycogen storage disease caused by mutations in the lysosomal-associated membrane protein 2 or LAMP2 gene (OMIM 309060) located at chromosomal position Xq24. svga projector netflixWebJan 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 … svga projectorWebDanon 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 … svga projector display 1080pWebDanon 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. basa digital entrarWebMar 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 ... svga projector mini usb