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 … 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.
Danon disease symptoms
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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 … 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 …
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. …
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., … 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 …
WebDanon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy) and skeletal muscles (myopathy) and intellectual disability. Explore …
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. grantham arenahttp://danondisease.org/id2.html chipboard 18mmWebNov 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 … chipboard 22mmWebDanon 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. chipboard 24WebDanon 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 ... chipboard 24x36WebMay 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 ... grantham art discountWebSep 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). … chipboard 22mm flooring