Use

Use to diagnose myotonic dystrophy type 1 (DM1) in symptomatic individuals. May be used for screening in adults with a family history. Myotonic dystrophy type 1 is a multisystem disorder characterized by myotonic myopathy affecting the eye, heart, endocrine system, and central nervous system. The clinical presentation varies from mild to severe, with subtypes such as mild, classic, and congenital DM1, each associated with different manifestations and age of onset. Full-penetrance disease alleles, which contain 50 or more CTG repeats, are associated with DM1 manifestations. Offspring of affected individuals may inherit expanded alleles with potential for transmission expansion.