Pseudohypertrophic myotonic dystrophy is an X-linked recessive genetic disorder, which is divided into two types: Duchenne progressive myotonic dystrophy and Baker progressive myotonic dystrophy, depending on the degree of spatial structural changes and functional loss of Dys. Baker-type progressive myotonic dystrophy progresses slowly (the course of the disease can be more than 25 years, often still able to walk after 20 years of age); it is not accompanied by myocardial involvement or only mildly involved, and the prognosis is better, also known as benign type. Pseudohypertrophic myotonic dystrophy is a hereditary disease, multi-linked recessive inheritance, individual for the chromosomal recessive inheritance. Application of molecular biology methods have been DMD gene located on X chromosome Xp21.1 to Xp21.3, the causative gene is dystrophin gene, which is the largest human gene found to date, about 2000kb or more, containing 79 exons coding, a 14kb transcribed region. Studies have shown that 60% to 70% of DMD is due to gene deletions or duplication mutations. Gene deletions are distributed non-randomly, occurring mainly in the central region of the gene (80%), with a few occurring in the 5 end (20%). In patients with BMD, the deletion maintains the translational reading frame and produces a half-functional, shortened protein. The “reading frame” hypothesis explains 92% of the different clinical types of DMD/BMD patients. Dystrophin is part of the dystrophin glycoprotein complex (DGC), a complex of membrane-associated proteins that span the myofibril membrane and connect the intracellular cytoskeleton to the extracellular matrix. duchenne myotonic dystrophy patients have a reduced DGC component due to the absence of dystrophin, which is synthesized normally but not properly assembly and integration into the myofibril membrane. This presumably triggers a series of chain reactions leading to myocyte necrosis in DMD due to the impairment of DGC. dystrophin deficiency causes disruption of the cytoskeleton and extracellular matrix connections beneath the myofiber membrane, resulting in myofiber membrane instability, membrane tearing, and myocyte necrosis.