Research Of Clinical Manifestation In Facioscapulohumeral Muscular Dystrophy

Objective: To study the most common symptoms and clinical manifestations of facioscapulohumeral muscular dystrophy(FSHD); count the value of several creatases, to know the range of them; to find out the features of muscle biopsy; to study whether patients of facioscapulohumeral muscular dystrophy in China also have retinal vescular disorders, in order to know if it is necessary to let all the patients do fundus vessel examination or fluorescein angiography; evaluate clinical severity of facioscapulohumeral muscular dystrophy, analysise all the factors that probably have an effect on it. Methods: Choose the patients who were diagnosed as facioscapulohumeral muscular dystrophy according to the diagnostic criteria, design a data tabulation and collect datas of all the patients; classify all the patients according to the clinical severity scales which was formulated by Dr. Ricci; count all the clinical manifestations and datas of retinal vascular disorders; analyse all the factors that probably have an effect on clinical severity of facioscapulohumeral muscular dystrophy by using single factor analysis and motor factors nonlinear regression analysis. Result: There is no scxualit difference, mean age of onset is 24.96±14.07岁; about 40.7% of patients was falling ill by weakness of facial muscles, such as weakness of eye closure, lips closure and air-blowing, cannot whistle, etc., and about 37% of which was falling ill by cannot abducting shoulders >90; about 88. 89% of FSHD patients have weakness in serratus anterior muscle, 81. 48% in ectopectoralis, 77.78% in biceps, 77.78% in orbicularis oris muscle, 70.37% in orbicular muscle of eye; extraocular muscle and deltoid is spared; we also find that serus creatase was normal or lift slightly, the value of which is lower than five as normal; electromyograph suggests chronic muscle defect; there is no specificity in muscle biopsy but we find that if we choose the gastrocnemius to do the biopsy, the pathology of which is in the end stage; nobody has retinal vescular disorders; the age of onset and the mode of onset have a roll on clinical severity of this disease, the earlier the onset is, the severer the severity is. Conclusion: We find that the most common mode of onset of FSHD patients is weakness of facial muscle or upper limbs. Extraocular muscle and deltoid is spared. The serum levels of creatases is normal or elevate slightly. We shouldn't to choose gastrocnemius to do the muscle biopsy. Otherewise, we find that no patient has retinal vescular disease, which may suggest that such patient in China aren't with retinal vescular disease. We also find age of onset have an affect on clinical severity of this disease. For the sample size of our reseach is too small, there may be some bias. Further research will proved if our conclusion is true.