Clinical And Gene Diagnosis Of Myotonic Dystrophy

ObjectiveTo further study clinical characteristic of myotonic dystrophy and to explore the gene diagnosis method of myotonic dystrophy.MethodTo Summarize the clinical diagnosis in our department for the myotonic dystrophy clinical features of 5 patients from 2008 to 2011;To extract the DNA in venous blood of myotonic dystrophy patients and the part of the normal family.The gene mutations were analyzed by polymerase chain reaction(PCR) on the basis of DM1,DM2 primers.Retrieval the gene strap according to agarose gel electrophoresis result. Direct sequencing,count the CTG-repeats and CCTG-repeats of myotonic dystrophy,which compared with the health adult.Result5 cases of myotonic dystrophy was diagnosed in clinic.Their CTG repeat numbers expanded less than 37 and CCTG repeat numbers expanded less than 27.(CTG or CCTG)n repeat expansion in Myotonic dystrophy were not detected by PCR amplifying with isotope maker.ConclusionsMyotonic dystrophy is an autosomal dominant genetic disease.The most frequent clinical manifestations were myotonia, myasthenia, amyotrophy.DM can influence mul- tiple systems include cataract,arrhythmia,diabetes,Baldness,hyperhidrosis,sexual disturba- nce, hypophrenia and other degenerative systems. The gene diagnosis can be used as diagnostic criteria.The detecting the CTG-repeats and CCTG-repeats in DM1or DM2 can provide an effective way for the genetic and presymptomatic diagnosis.(CTG or CCTG)n repeat expansion in Myotonic dystrophy were not detected by PCR amplifying in 5 cases,maybe new morbigenous site have not been detected(DM3).