Dissertation
Dissertation > Medicine, health > Neurology and psychiatry > Neurology > Neuromuscular disease > Muscular dystrophy

The Natural History of Clinical and Pathological Features of Duchenne Muscular Dystrophy

Author MaLiLi
Tutor YanChuanZhu
School Shandong University
Course Neurology
Keywords DMD dystrophin pathological changes immunohistochemistry stain
CLC R746.2
Type Master's thesis
Year 2011
Downloads 26
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Objective:To explore the natural history and factors contributing to pathological changes of Duchenne muscular dystrophy, by detecting the relationship between clinical features and pathological severity of Duchenne muscular dystrophy in different stage.Materials and Methods:All the probable DMD patients diagnosed at the neuromuscular laboratory of Qilu hospital affiliated to Shandong University were evaluated first. The routine histochemistry stains and dystrophin immunohistochemistry stain were carried out for all the specimens taken from the probable DMD patients. The definite DMD patients, diagnosed by dystrophin IHC, were enrolled in this study eventually. We divided the patients into three groups:the prophase (< 4 year-old-age), the metaphase (5-8 year-old-age) and the advanced stage (>9 year-old-age). Then we analyzed the relationship between clinical features and pathological severity of Duchenne muscular dystrophy in different stage.Results:78 DMD patients were enrolled in this study.1. The routine histochemistry stain revealed that:there are 13,5and 4 patients in prophase group showed mild, moderate and severe pathological changes respectively. And there are 9,10 and 8 patients in metaphase group showed mild, moderate and severe pathological changes respectively. At last,5,13 and 11 patients in advanced stage group showed mild, moderate and severe pathological changes respectively. So, the severity of pathological changes may be affected by the age of patients, that is the older the patient is, the more sever the pathological change is.2. The dystrophin IHC stain showed that the 78 samples lost the dystrophin protein much severely on the sarcolemma. Nonetheless, the dystrophin expression showed no difference among different age groups.3. The dystrophin expression showed no difference among mild, moderate and sever pathological change groups either.Conclusions:The severity of pathological changes is affected by the age of DMD patients, while is not influenced by the dystrophin protein expression. The dystrophin protein expression is not influenced neither by the severity of pathological changes nor the age of patients.

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