How to diagnose benign pseudohypertrophic myotonic dystrophy

       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 disease can last more than 25 years, and often can still walk after 20 years of age); it is not accompanied by myocardial involvement or only mildly involved, and has a better prognosis, also known as benign type.  Becker muscular dystrophy (Becker muscular dystrophy, BMD) is also caused by mutations in the DMD gene, and usually the abnormal DMD protein produced after the mutation is still functional. The abnormal DMD protein produced after the mutation is usually still functional, and therefore the clinical symptoms are much milder than those of DMD.  The diagnosis is generally easy to make based on patient-specific symptoms and signs, combined with blood CPK enzymatic tests and electromyography findings. Confirmation of diagnosis can be based on multiplex PCR techniques, Southern hybridization, point mutation examination, and other methods. For families with unspecified mutations, STR loci can be used for linkage analysis for carrier detection or prenatal diagnosis.  There is no effective therapy for DMD, and the only effective way to prevent it is prenatal diagnosis of high-risk fetuses and abortion after confirmation of the diagnosis.