Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder that primarily affects muscles, leading to progressive muscle degeneration and weakness. It is one of the most common types of muscular dystrophy, with significant advancements in gene therapy offering hope for affected individuals and their families. This blog delves into the nature of DMD, its inheritance…
Mitochondrial disorders are a group of rare and complex conditions resulting from dysfunctional mitochondria, often referred to as the powerhouses of cells. These organelles are vital for producing energy that supports various bodily functions. When they fail, they cause significant health challenges. Consequently, individuals with mitochondrial disorders often face diverse symptoms that affect multiple organ…
Von Willebrand Disease (VWD) is a hereditary bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (VWF), an essential protein for blood clotting. This blog explores its types, causes, symptoms, and treatment options, providing a deeper understanding of how to manage this condition effectively. What is Von Willebrand Disease? To begin with,…
Haemophilia is a rare genetic disorder that impacts the blood’s ability to clot. Consequently, this condition often leads to prolonged bleeding, even from minor injuries. While it poses significant challenges, advancements in treatment are continuously improving the quality of life for affected individuals. What is Haemophilia? Haemophilia refers to a hereditary blood disorder caused by…
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system and causes tumors to grow along nerves. These tumors are generally benign but can sometimes cause complications, depending on their size and location. There are three main types of neurofibromatosis: NF1, NF2, and schwannomatosis. This blog explores the causes, symptoms, and treatment options for…