Analysis Of The Clinical Manifestation And MLPA Genetic Features Of 10 Children With Duchenne Muscular Dystrophy

Objective:To analyze the clinical features and MLPA genetic tests of 10 children with Duchenne muscular dystrophy(DMD)and review related literature,and to provide basis for early diagnosis and treatment for this disease.Methods:A retrospective analysis was performed on the clinical features,laboratory examination,and MLPA genetic test results of 10 children with DMD who were admitted to PICU of the Affiliated Shengjing Hospital of Chinese Medical University from July 2014 to May 2018.Results:All the 10 cases were boys with one having a family history of DMD,and the age of diagnosis of DMD was 78 days-3 years.All patients had insidious onset and increases in alanine aminotransferase,aspartate aminotransferase,lactate dehydrogenase,?-hydroxybutyrate dehydrogenase,myoglobin,creatine kinase(CK),and creatine kinase-MB,particularly CK,which was 49.5-184.1 times the normal level.All of these have normal eletrocardiogram and echocardiography,and Electromyography showed myogenic damage in four of five.Their gene detection results all showed DMD gene deletion mutations,seven of these are exon 45-54 deletion,and one with all 79 exons deletion diagnosis Xp21 contiguous gene deletion syndrome.Conclusions: For boys with increased serum CK levels and abnormal motor function,DMD should be highly suspected.It should be confirmed by DMD gene detection or muscle biopsy as soon as possible.Early intervention for protecting the remaining normal muscle fibers is beneficial to delay the progression of the disease and improve living quality.