Danon disease symptoms

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August undefined, 2024

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. 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 …

LAMP-2B regulates human cardiomyocyte function by mediating ... - PNAS

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 … 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 … bioacoustics sharry edwards

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

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. 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. WebNov 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. … bio action power

Danon Disease - GeneReviews® - NCBI Bookshelf

WebIn FEMALES the symptoms of Danon Disease are less severe. Common symptoms of Danon Disease in females are: A later age of onset of symptoms. Many females will not have obvious symptoms until late … WebDanon disease. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism … daenerys targaryen and jon snow relationWebDanon 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 … daenerys targaryen action figure

"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 … " - Danon disease symptoms

Danon disease symptoms

http://danondisease.org/id2.html 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.

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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 … http://danondisease.org/

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 ... 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 …

WebMay 1, 2024 · Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. ... The main symptoms of the proband were recurrent chest tightness and asthma for 6 months after activity, and occasional palpitations and fatigue. One week after admission, the ... WebMay 4, 2024 · Introduction. Danon disease is an X-linked dominant disorder with defects in the lysosome-associated membrane protein 2 (LAMP2) gene and is characterized histologically by the appearance of intracellular autophagic vacuoles in skeletal and cardiac muscles.1 Because of haploinsufficiency, male patients are more severely affected than …

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). …

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 … bio actionWebWhat are the symptoms of Danon disease? weakening of the heart muscle ( cardiomyopathy) weakening of the skeletal muscles (myopathy) intellectual … daenerys targaryen book illustrationWebJan 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] … daenerys targaryen book descriptionWebAug 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 … daenerys targaryen character analysisWebFeb 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., … bio action power biospheraWebBoucek 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 … bio action proWebJun 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 ... bio action mega