Myotonic dystrophy

Myotonic dystrophy is an autosomal dominant inherited multi-system disorder characterized by progressive muscle weakness, muscle atrophy, and myotonia. The disease includes type 1, caused by variations in the myotonic dystrophy protein kinase gene (DMPK), and type 2, caused by variations in the cellular nucleic acid-binding protein gene (CNBP). Type 1 is the most common muscular dystrophy in adults, while type 2 is rare. Clinical manifestations mainly include skeletal muscle weakness, muscle atrophy or stiffness, cardiac conduction abnormalities, cataracts, and infertility.