Danon disease symptoms

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August undefined, 2024

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. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism …

Danon disease: a case report and literature review Diagnostic ...

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. 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). … how are rocks and minerals different for kids

Danon disease - Getting a Diagnosis - Genetic and Rare …

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. 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 … 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 … how many miles is 10 560

Danon Disease: Practice Essentials, Pathophysiology, Epidemiology

Danon disease - Wikipedia

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 … WebAug 25, 2024 · There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include: Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common. Stretchy skin. how are rocks classified in the rock cycleWebDanon 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 ... how are rocks classified into 3 types

"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 ... " - Danon disease symptoms

Danon disease symptoms

WebNov 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 … 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 ...

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WebBoucek et al. (2011) concluded that women with Danon disease present with clinical symptoms and events approximately 15 years after men and report a higher proportion … WebMar 5, 2024 · Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are …

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 … 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 …

WebLysomal 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 … how are rocks chemically weatheredWebNov 24, 2024 · Danon disease is also known as lysosomal glycogen-storage disease with normal acid maltase. Danon disease is a rare form of HCM and muscular dystrophy. … how many miles is 107 kmWebFrom 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 … how many miles is 1000 nautical milesWebNov 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 … how many miles is 100 furlongsWebFeb 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., … how are rock salt and rock gypsum formedWebDec 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 … how are rocks formed ks3WebDanon 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 … how are rocks formed and changed over time