Gene Analysis Of Duchenne Muscular Dystrophy Patients And Preliminary Clinical Efficacy Of Hormone Therapy

Objective: In this study, the children’s clinical features ofhypertrophical muscular dystrophia were collected and given geneticanalysis. All the children were given Prednisone therapy. The goal is tounderstand the genetic defect, investigate the clinical effect of prednisonetherapy and observe on adverse reaction of hormone therapy of duchennemuscular dystrophy patients.Methods:The clinical data from52children with Duchenne musculardystrophy were observed from October2011to October2013in Children，sHospital of Chongqing Medical University, with the adoption of PCR forgenetic analysis, and the suggestion to oral prednisone therapy. Treatmentwith prednisone orally, dose using0.75mg/kg daily during the first3-6month, and then0.3mg/kg daily Maintain6-24months. Follow-up onceevery three month. By strengthening improvement, creatine kinase levelchanges and Side effects of prednisone therapy observed the clinical effectof children.Results: In the52cases, they are all boys. Aged from10months to16years, with an average age of7.413.07. Group of preschool is23patients (＜7years old). There are29children of school-age group (≥7years old).The level of creatine kinase in serum was significantly raised. CK levelswere compared using t test between preschool and school age group (t=229.33, p <0.001). The difference was statistically significant.51casescompleted EMG detection, and5cases had no obviousabnormalities(90.19,46/51).47cases completed the unilateral calf MRIexamination, and4cases were not seen obvious abnormity（91.48%,43/47).There are24cases completed the general12-leads ECG, including13casesis abnormal（30.23%,13/43）. There are52cases improved the detection ofPCR gene, and24cases were confirmed to be carriers with gene deletion（46.15%,24/52). Gene deletions are mainly occurs between in central and5’-terminus hot spot. The parents of52cases that they were all consent tooral prednisone therapy and regular follow-up. The follow-up results:1.After the treatment of52cases, muscle strength improved significantly are31cases (31/52,59.61%). The strength stability are12cases(12/52,23.07%), the total efficiency is82.69%. Decreased muscle strengthare9cases（9/52,17.31%). There have been11cases with automaticwithdrawal (11/52,21.15%);2.Gene defect group have24cases. Thestrength stability are21cases(21/24,87.50%). Decreased muscle strengthare3cases (3/24,12.50%). There have been15cases with automaticwithdrawal (5/24,20.83%); No gene defect group is28children.Thestrength stability is22cases(22/28,78.57%). Decreased muscle strength are 6cases (6/28,21.43%). There have been6cases with automatic withdrawal(6/28,21.43%). The comparison of hormone therapy of gene positive groupand negative group is significant difference （χ2=12.96, p＜0.05）.3.Preschool group have23cases（＜7years old). The strength stability are18cases（18/23，78.26%）. Decreased muscle strength are5cases（5/23,21.74%). There have been5cases with automatic withdrawal（5/23,21.74%）; School-age group is29children（≥7years old）. Thestrength stability are25cases(25/29,86.21%). Decreased muscle strengthare4cases （4/29,13.79%). There have been6cases with automaticwithdrawal （6/29,20.69%）. The comparison of hormone therapy ofPreschool and school-age group is significant difference（χ2=12.03, p＜0.05）；4.Muscle strength grade I group have14cases. The strength stabilityare13cases (13/14,92.86%).Decreased muscle strength are1cases（1/14,7.14%); Muscle strength grade II group is38children. The strengthstability are30cases（30/38,78.95%）.Decreased muscle strength are8cases （8/38,20.05%）.The comparison of hormone therapy of Childrenwith different strength is no significant difference （χ2＝25.29,P＞0.05）;5.Standard medication group group have41cases. The strengthstability are37cases（37/41,90.24%）.Decreased muscle strength are4cases（4/41,9.76%）; No Standard medication group is11children. Up tonow,the strength stability are3cases（3/11,27.27%）. Decreased musclestrength are8cases （8/11,72.73%）. The comparison of standard medication group and not standard medication group have no significantdifference（χ2=0.1429,p＞0.05）；6. Symptomatic improvement group is43cases and symptomatic aggravate group is9cases. the relationship betweenage and prednisone treatment in improvement of symptoms and thesymptoms aggravated is used t test. The results suggest that difference isstatistically significant (P <0.05);7.After the treatment,the weight gainwere50cases, height is not increased was0case, hypertension was0case,abnormal mental behavior was0case, cataract was0case, skeletalabnormalities (bones or vertebrae) was1case and repeated infection is0case.Conclusion: The study of the cases confirmed:1. prednisone therapyis effective for DMD/BMD, and the earlier age, the more standardized andthe longer course, the better effective for DMD/BMD.2.The comparison ofhormone therapy of gene positive group and negative group is nosignificant difference.3.the older age and not standard drugs, the effect andprognosis is worse.4.Although the effect of the revised prednisonetreatment is similar to the other scholars, but except for the weight gain, noother serious adverse reactions were happened. so This method is easier tobe accepted.