Analysis Of Clinical,Pathological And Genetic Characteristics Of Muscular Dystrophy

Objective: Combine the clinical manifestations,serum CK level,E MG,muscle pathological results and genetic testing to give a final diag nosis of patients who are clinically considered to diagnose with muscula r dystrophy.Analyze and summarize relevant data to improve the charac teristic understanding of muscular dystrophy,avoid misdiagnosis and enh ance accurate diagnosis.Methods:Collect and summarize a total of 76 patients who suspected of mus cular dystrophy according to their clinical manifestations and muscle pat hological results.Combine with the genetic results to make the final dia gnosis and analyze related data.Results: 1.Combining with the clinical manifestation,test,muscle b iopsy,there are 42 patients diagnosed as muscular dystrophy(42/76,55.3%),27 patients still undiagnosed(27/76,35.5%)and 7 patients diagnose d as others(7/76,9.2%).The diagnosed MD patients contain 12 cases of BMD(12/42,28.6%),30 cases of LGMD(30/42,71.4%),of which 23 cases are LGMD2 B,5 cases are LGMD2 A,1 case is LGMD1 B,1 case is LGMD2 D.2.The visiting age of MD patients is range from 8 to52 years old,with an average of about 26.43±10.25 years old.The ons et age is range from 3 to 40 years old,and the average is about 21.33±9.18 years old.The main onset symptoms are limb weakness,limb pai n,hyper CKemia and palpitation.The average serum CK level is 4528.3±3797.1U/L.Most electromyograms show myogenic damage and occasio nal neurogenic damage.3.The muscle biopsy in MD patients shows nor mal to severe myotonic damage,and some have the RRF and rimmed v acuoles.The absence and decrease of dysferlin protein is the most common seen in the immunohistochemistry staining.Conclusions:1.Muscular dystrophy presents a huge clinical heterogeneity.Serum CK can be mild to severely elevated,and both myogenic and neurogen ic damage can be seen in EMG.Muscle biopsy shows normal to severe myotonic damage.2.Among young adults in Hebei province,limb-girdle muscular dy strophy is more commonly seen in muscular dystrophy,followed by BM D.And the incidence of LGMD2 B is higher in LGMD patients,3.Muscle dystrophy carries a very high misdiagnosis rate.Clinical manifestation,EMG and muscle biopsy plays a very important role in d iagnosis.Combining genetic testing can elevate the final diagnosis rate.