Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder that primarily affects muscles and is characterized by muscle weakness and wasting. It typically begins in childhood or early adulthood and often leads to joint contractures, which limit movement. The condition is caused by mutations in genes responsible for muscle function, particularly the EMD gene.
Individuals with EDMD may experience heart problems, such as cardiomyopathy, which can lead to serious complications. Diagnosis is usually confirmed through genetic testing and muscle biopsies. While there is no cure, management focuses on physical therapy and monitoring heart health to improve quality of life.