Myotonic dystrophy type 2
Proximal Myotonic Myopathy, DM2, PROMM
Type of disease: Rare conditions
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person’s twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. The severity of myotonic dystrophy type 2 varies widely among affected people, even among family members. It is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene. Treatment is based on each person’s specific signs and symptoms.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.