Danon disease symptoms

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August undefined, 2024

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 … WebNov 1, 2024 · A tentative diagnosis of Danon disease was made, although his symptoms were atypically mild, lacking obvious cardiac involvement or mental retardation. Later, at the age of 44 years, the diagnosis was confirmed by a genetic test of LAMP-2 demonstrating a hemizygous mutation c.1097_1098delAA in exon 9b.

Danon disease - Wikipedia

WebMar 14, 2008 · Fabry Disease: The symptoms of Fabry disease usually begin during early childhood or adolescence but may not become apparent until the second or third decade of life. ... Lacoste-Collin L, Garcia V, Uro-Coste E, et al. Danon’s disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. … 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 … greece powa numbas results

Danon disease: MedlinePlus Genetics

WebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying … WebSep 29, 2024 · Therefore, it is thought to be the cause of Danon disease where autophagy stops at the final stage (a stage of fusion between autophagosomes and lysosomes). … 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 … florist the township ridgeland ms

Danon disease - Getting a Diagnosis - Genetic and Rare …

Danon Disease - GeneReviews® - NCBI Bookshelf

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 … WebFeb 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., … greece powa numbersWebLysomal storage diseases occur when the body doesn’t have the necessary protein cells to properly metabolize and recycle waste (an intracellular process called autophagy). When … florist three rivers mi

"WebDanon disease has overlapping symptoms with another rare genetic condition called 'Pompe' disease. Microscopically, muscles from Danon disease patients appear similar to muscles from Pompe disease patients. However, intellectual disability is rarely, if ever, a symptom of Pompe disease. Negative enzymatic or molecular genetic testing for Pompe ... " - Danon disease symptoms

Danon disease symptoms

Inborn errors of carbohydrate metabolism - Wikipedia

WebGSD 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 ... 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 …

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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.[1] … WebWhat are the symptoms of Danon disease? weakening of the heart muscle ( cardiomyopathy) weakening of the skeletal muscles (myopathy) intellectual …

WebAug 1, 2024 · Danon's disease is a type of lysosomal storage disorder (X-linked lysosomal and glycogen storage disorder) that occurs due to a defect in the lysosomal cell … WebDanon Disease is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon …

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 experience more serious symptoms and earlier onset of symptoms. Females tend to experience milder symptoms that begin during early adulthood. 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.

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 …

WebFeb 9, 2024 · Signs & Symptoms. Symptoms of Danon disease vary from person to person and depend on gender. Boys usually show early signs of muscle problems … florist tickhill doncasterWebJan 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 … florist thornton cleveleys ukWebMar 5, 2024 · Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are … florist theydon boisWebDanon disease. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism … greece power adapterWebDanon 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 … greece powerball 2018WebDanon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy) and skeletal muscles (myopathy) and intellectual disability. Explore … greece pottery greece powerball 10 march 2022