Therapeutic trials and future advances

Abstract Recent discoveries of the gene defects responsible for myotonic dystrophy type I (DM1) (Brook et al. 1992; Fu et al. 1992; Mahadevan et al 1992) and myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) (Liquori et al. 2001; Day et al. 2003) have created new opportunities to pursue therapeutic trials. They have also presented the need to redefine the natural history of the myotonic dystrophies. Specific diagnostic tests using DNA analysis are now available to identify both asymptomatic and symptomatic individuals