Clinical,Pathological And Genetic Studies Of Becker Muscular Dystrophy

ObjectTo analyze the clinical manifestation,pathological and genetic characteristics of BMD,and provides references for the clinical diagnosis of BMD.Materials and MethodsThe clinical manifestations,pathological changes,genetic characteristics of 12 cases of BMD from 2014 to 2018 in the Department of Neurology of people's Hospital of ZhengZhou University and 76 cases of BMD from 2010 to 2017 in the Department of Neurology of Peking University were retrospectively analyzed.To analyze the relationship between the clinical manifestations and pathological changes,and DMD gene mutations.Results88 cases were enrolled in this study.Their onset age were from 5 to 41 years old,the median age was 11 years old,the course of disease were from 2 months to 20 years,and the median duration was 5 years.There were 43 cases of limb-girdle muscle weakness,5 cases of skeletal muscle cardiomyopathy,4 cases of isolated cardiomyopathy,17 cases of quadriceps disease,19 cases of asymptomatic high creatine kinase,the median ages of onset in each group were 10 years old,16 years old,20 years old,18 years old,and 8 years old.There was a positive correlation between the Vingos scores and the ages and durations of the 65 patients with muscle weakness(p<0.05).The median scores of dystrophin-N,C,R staining in 88 patients were 3,4,5 respectively,the differences between the three groups were statistically significant(p<0.05).There was no significant difference in the scores of dystrophin-N,C,R staining between patients with normal muscle strength?limb-girdle muscle weakness and quadriceps disease.There were statistically significant differences in the dystrophin-C staining scores among the 65 patients with muscle weakness between the onset age <=12 years and >12 years old group(p=0.009).There were statistically significant differences in the dystrophin-C staining scores among the 57 patients between the age of needing help in climbing the stairs <=19 years old and >19 years old group(p=0.019).There was no correlation between the Vignos scores of BMD patients and the dystrophin-N,C,R staining scores.64 patients underwent DMD gene detection,including 47 exon deletion mutations,5 exon duplication mutations,and 12 minor mutations.Among 52 cases with exon deletion and duplication,40 cases were in reading frame mutations,and 12 cases were outside reading frame mutations,accounting for 62.5% and 18.8% respectively in 64 patients.The difference was not statistically significant in the vignos scores between BMD patients who had mutations in the reading frame and outside the frame(p=0.735).Conclusion1.The clinical manifestations of BMD patients are complicated,including proximal muscle weakness,exercise-induced muscle spasm pain,myocardial involvement,asymptomatic high creatine kinase.For male patients with clinical manifestations above,we maybe consider the possibility of BMD.2.There is a correlation between motor function and duration,age of patients with muscle weakness.The older,the longer the course of disease,the worse their motor function.3.The degree of dystrophin-C deficiency in BMD patients with muscle weakness is related to the age of onset and the age of climbing stairs with difficulty.The more severe the degree of deficiency,the earlier the age of onset and climbing the stairs with difficulty.4.Whether the gene mutation destroys the reading frame or not has no relationship with clinical severity.