About Myotonic Dystrophy
Myotonic muscular dystrophy (DMD) is a genetic disorder characterized by muscle degeneration and weakness that generally begins in adulthood. The prevalence of myotonic muscular dystrophy is 1 in every 8000 people. Common symptoms include stiffness and tightness of muscles, progressive muscle wasting, which leads to muscle weakness in lower legs, neck, hands, and face. Cognitive disabilities can also occur. Myotonic dystrophy can be categorized into myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). DM1 is result of an abnormal expansion of a CTG genetic element in the DMPK gene.
The expanded toxic RNA forms a tangle that generates pellets within the cell (revealed as red dots in cells from affected patients; shown in the middle panel). The tangles trap factors required for muscle protein production. It is this defect in muscle protein production that leads to progressive tissue loss. The left panel shows cells from a non-affected individual – there are no tangles and muscle protein production is normal.
When diseased cells are treated with our therapeutic candidate, ENZ-001 the tangles are destroyed and proper muscle protein production is restored.