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 both males and females, the symptoms are more profound in males because it is inherited through the X chromosome. 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.
Danon disease symptoms
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WebJan 15, 2015 · Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the LAMP2 gene. In this case report, we present a patient with a novel ... 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 …
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 …
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 … 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 ...
WebNov 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 …
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 … how do you promote gender equalityWebDanon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy) and skeletal muscles (myopathy) and intellectual disability. Explore … how do you promote independence in careWebSymptoms. 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. phone memory full how to delete filesWebNov 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. how do you promote inclusion in the workplaceWebGlycogen 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 … how do you promote diversity in the workplaceWebIn 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 … phone memory otherWebMar 5, 2024 · Clinical characteristics: Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying … how do you promote health and safety at work