Tag: Genetic Testing
-
Understanding DRPLA: A Rare Disease Impacting Families in Wales
The Rare Condition: DRPLA Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurological disorder that has recently gained attention due to a noticeable cluster of cases in South Wales. Initially thought to primarily impact individuals of Japanese descent, studies have identified a significant prevalence in Welsh communities. This article explores the emotional and physical toll DRPLA takes…
-
Genetic Screening for Duchenne Muscular Dystrophy in Women
Introduction to Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a genetic, progressive muscle-wasting disease that primarily affects boys but can also impact carrier females. This condition results from mutations in the dystrophin gene, crucial for muscle function. Early detection through genetic screening is vital for management and planning for families. The Recent Screening Issue…
-
Genetic Testing Update for Duchenne Muscular Dystrophy in Women
Overview of Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a serious genetic condition characterized by progressive muscle degeneration. It primarily affects males, but female carriers can also be impacted. The condition is caused by mutations in the dystrophin gene located on the X chromosome, leading to a deficiency of dystrophin, a protein essential for…
-
Genetic Testing for Duchenne Muscular Dystrophy: Important Update
Introduction to Genetic Testing for Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder that primarily affects boys, leading to progressive muscle degeneration. Women, particularly those who are pregnant or planning to conceive, also need to be aware of their genetic status regarding this disease. As of November 2024, a genetic screening…
-
Transforming Genetic Predictions: A New Dawn in Disease Risk Assessment
In the labyrinth of genetic testing, the revelation of a rare DNA mutation often leaves both doctors and patients grappling with uncertainty. What does it mean? What are the implications for health? These questions hang in the air like a dense fog, opaque and confusing. However, a revolutionary advancement at the Icahn School of Medicine…