Danon disease symptoms

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August undefined, 2024

WebJun 14, 2012 · Danon disease is a rare X-linked dominant lysosomal disease due to the primary deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. ... The clinical symptoms are variable, from ... WebDanon disease is inherited as X-linked dominant; thus, males are more severely affected than females, although females develop symptoms at a later onset. Patients with …

Danon Disease - Symptoms, Causes, Treatment NORD

WebDec 24, 2024 · Mutations in the X-linked LAMP-2 gene are associated with Danon disease. Symptoms of Danon disease include hypertrophic/dilated cardiomyopathy, heart failure, muscle weakness, retinopathy, and mental retardation (8–11).The mean ages in years of diagnosis of cardiomyopathy and death are 13 and 19 in men and 30 and 35 in women … WebDanon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy) and skeletal muscles (myopathy) and intellectual disability. Explore … green thumb cards online

Danon Disease Clinical Presentation: History, Physical, Causes

WebDanon disease is inherited as X-linked dominant; thus, males are more severely affected than females, although females develop symptoms at a later onset. Patients with Danon disease typically show a triad of findings: hypertrophic cardiomyopathy, muscle weakness, and mental retardation. Other organs like the liver and retina can also be involved. WebDanon disease is a rare, semidominant X-linked disorder that results from primary deficiency of lysosome-associated membrane protein 2 (LAMP2 ). 47,83 Cardiac symptoms typically begin during adolescence with progressive HF that results in death or cardiac transplantation in the third decade. WebFrom MedlinePlus Genetics Danon 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. Signs and … fnb trading account

About: Danon disease - North Carolina State University

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 … WebGlycogen storage disease type IIa, also called Pompe disease, (not to be confused with GSD-IIb, Danon disease, which has similar symptoms but a different gene).It is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency … fnb towers addressWebJan 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.[1] … green thumb canoga park ca

"WebJan 11, 2024 · Danon disease (DD) is a monogenic lysosomal storage disorder characterized by cardiomyopathy, skeletal myopathy, and variable degrees of intellectual disability. It is caused by a deficiency of lysosomal-associated membrane protein 2 (LAMP2). Two unrelated boys who presented with severe hypertrophic cardiomyopathy … " - Danon disease symptoms

Danon disease symptoms

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 … WebBackground and History: This disorder was first described by M.J. Danon and coworkers in 1981. It was originally thought to be a form of glycogen storage disease of which there are multiple types but it has since been shown to be a disease of abnormal metabolism of breakdown products of tissue.

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WebSymptoms. Danon Disease is not usually detected at birth. However, noticeable symptoms arise over time. These symptoms range from mild to severe. Males tend to … WebDanon disease Other Names: Antopol disease; GSD2B (formerly); ... In addition, rare diseases can have symptoms that are hard to detect or that may have many possible …

WebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon … WebNov 24, 2024 · Male patients with Danon disease have mild weakness in the proximal extremities and neck muscles in a pattern of limb-girdle muscular dystrophy. As the …

WebMost women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have … WebIn Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by variations in the LAMP2 gene. Danon disease is inherited in an X-linked dominant pattern. In this type of inheritance, males tend to be more severely affected …

WebJan 15, 2015 · Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the LAMP2 gene. In this case report, we present a patient with a novel ...

Males In males the symptoms of Danon disease are more severe. Features of Danon disease in males are: • An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) • Some learning problems or intellectual disability can be present green thumb cannabis newsWebNov 25, 2024 · Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>C) with cardiac-only symptoms … greenthumb cardiff westWebFeb 3, 2024 · Danon disease (OMIM #300257) is an X‐linked dominant genetic condition caused by mutations in the lysosomal‐associated membrane protein 2 (LAMP2) gene leading to a lysosomal disorder (Arad et al., 2005).The main clinical manifestations of Danon disease are cardiomyopathy, myopathy, and intellectual disability (D'Souza et al., … greenthumb careersWebGSD type IIb (GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency) Symptoms of both GSD types IIa and IIb are very similar due to a defect in lysosomes. However, in type IIb, some show abnormal glycogen accumulation, but not all. Classic infantile form (Pompe disease): Cardiomyopathy and muscular hypotonia ... fnb trinity texasWebDanon 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. greenthumb cardiffWebDanon disease. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism … greenthumb carlislehttp://danondisease.org/ fnb trinity tx