Myotonic Dystrophy type 2 SB Kit - FL

Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by myotonia, muscular dystrophy, cataracts, testicular atrophy, frontal balding and cardiac conduction defects. It is clinically heterogeneous and at molecular level at least two types can be distinguished: DM type 1 (DM1; Steinert disease) and DM type 2 (DM2; proximal myotonic myopathy (PROMM) o Ricker syndrome). DM1 is the most common form of muscular dystrophy in adults. It is caused by a [CTG]n repeat expansion in the 3’-untranslated region of the myotonic dystrophy protein kinase gene (DMPK) on chromosome 19. The [CTG]n repeat is polymorphic in the normal range, with repeat numbers ranging from 5 and 36; alleles containing over 36 CTG-repeats demonstrate a length-dependent risk of instability on transmission. Alleles containing a CTG-repeat with a length of 51-150 may be either asymptomatic or give rise to minimal or classical DM1. A more severe DM1 phenotype is associated with DMPK alleles with more than 150 repeat units.