Myotonic Dystrophy Type 1

Myotonic Dystrophy Type 1 (DM1) is a genetic disorder that affects muscle function and other bodily systems. It is characterized by progressive muscle weakness and myotonia, a condition where muscles have difficulty relaxing after contraction. DM1 can manifest in various ways, affecting not just skeletal muscles but also cardiac and smooth muscles, leading to a wide range of symptoms. These may include heart problems, cataracts, and endocrine issues. The disorder is inherited in an autosomal dominant manner and is caused by a genetic mutation in the DMPK gene. Symptoms can vary in severity and onset, making individualized management critical. Treatment focuses on symptom relief and improving quality of life.