Danon disease symptoms

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August undefined, 2024

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. WebDanon 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 …

Danon Disease Baptist Health

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 is a rare genetic condition causing muscle weakness (muscular dystrophy), heart disease (cardiomyopathy), and mental retardation (or learning problems). Danon … lattiamatot bauhaus

A family with Danon disease caused by a splice site mutation in …

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 … 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 … 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. lattiamassa kiilto 70 20kg

Frontiers Case Report: Identification of Mutations in LAMP2 …

Danon Disease Baptist Health

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 … 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 … lattiamassa lm 6000WebSymptoms. Danon Disease is not usually detected at birth. However, noticeable symptoms arise over time. These symptoms range from mild to severe. Males tend to … lattiamateriaali muovimatto

"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 ... " - Danon disease symptoms

Danon disease symptoms

Danon Disease - an overview ScienceDirect Topics

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. 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. …

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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 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. …

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 ... 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 …

http://danondisease.org/ 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.

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 …

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 ... lattiamatot autoonWebWhat are the symptoms of Danon disease? weakening of the heart muscle ( cardiomyopathy) weakening of the skeletal muscles (myopathy) intellectual … lattiamaton maalausWebDanon disease. Fabry disease. Hunter syndrome. Lysosomal storage diseases may also get triggered by: Inflammation. The interaction between the byproducts of metabolism … lattiamateriaalit k rautaWebDanon 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 … lattiamerkintäteippiWebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying … lattiamerkinnät lattiamateriaalin valintaWebMost women with Danon disease also develop cardiomyopathy; of the women who have this feature, about half have hypertrophic cardiomyopathy, and the other half have … lattiamateriaali lattialämmitys