Thelansis

  Danon Disease is a rare genetic disorder primarily affecting the skeletal and cardiac muscles, with multisystem clinical manifestations. The underlying genetic cause of the disease is a mutation in the lysosome-associated membrane protein 2 (LAMP2) gene, which leads to reduced expression of the LAMP2 protein. The reduction in LAMP2 protein expression disrupts intracytoplasmic trafficking, resulting in autophagic material and glycogen accumulation in skeletal and cardiac muscle cells. The classic presentation of DD is a triad of symptoms, including cardiomyopathy, skeletal myopathy, and intellectual disability in males. However, less prevalent symptoms, including retinal, hepatic, and pulmonary disease, may also be present. Due to the X-linked dominant inheritance pattern, male patients with LAMP2 mutations are typically affected more severely and at an earlier age than female patients. The major clinical features that suggest and confirm a diagnosis of DD include X-linked dominant

 Danon Disease is a rare genetic disorder primarily affecting the skeletal and cardiac muscles, with multisystem clinical manifestations. The underlying genetic cause of the disease is a mutation in the lysosome-associated membrane protein 2 (LAMP2) gene, which leads to reduced expression of the LAMP2 protein. The reduction in LAMP2 protein expression disrupts intracytoplasmic trafficking, resulting in autophagic material and glycogen accumulation in skeletal and cardiac muscle cells. The classic presentation of DD is a triad of symptoms, including cardiomyopathy, skeletal myopathy, and intellectual disability in males. However, less prevalent symptoms, including retinal, hepatic, and pulmonary disease, may also be present. Due to the X-linked dominant inheritance pattern, male patients with LAMP2 mutations are typically affected more severely and at an earlier age than female patients. The major clinical features that suggest and confirm a diagnosis of DD include X-linked dominant inh