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 … 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. …

Detection of intracellular histological abnormalities using cardiac ...

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. http://danondisease.org/id2.html diaphragms for sale

Danon Disease

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 … 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. 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 … citi custom cash grocery stores