title: [Clinical and pathological features of 50 children with Duchenne's muscular dystrophy].
abstract: OBJECTIVE
  To study the clinical and pathological features of children with Duchenne muscular dystrophy (DMD), with the aim of increasing the possibility of early diagnosis.
  
  
  METHODS
  The clinical data of 50 children who were definitely diagnosed with DMD, based on clinical manifestations and the results of skeletal muscle biopsies and monoclonal antibody immunohistochemical staining, was reviewed.
  
  
  RESULTS
  The children showed similar clinical manifestations, including running slowly in the toddler period, muscle weakness when climbing stairs and standing up followed by squatting down and walking abnormalities a predominant increase in serum creatine kinase level increased dominantly, and myopathic lesions seen on electromyography. Hematoxylin-eosin staining showed similar pathological presentations in all 50 children, including different-sized muscle fibers with rounding, degeneration and necrosis in various degrees, and proliferation of connective tissues. There was some inflammatory cell infiltration in muscle fibers and interstitial tissues. Dystrophin expression was completely absent at the sarcolemma in all 50 children, and sarcoglycan-α,-β, -',-δ expression was reduced to various degrees in 33 of them.
  
  
  CONCLUSIONS
  For children with the clinical manifestations mentioned above, skeletal muscle biopsies and monoclonal antibody immunohistochemical staining are recommended as these examinations contribute to a definite diagnosis of DMD by demonstrating dystrophin deficiency at the sarcolemma.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Qiu-Xiang
authors.initials: QX
authors.lastname: Li
authors.forename: Huan
authors.initials: H
authors.lastname: Yang
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Bo
authors.initials: B
authors.lastname: Xiao
authors.forename: Fang-Fang
authors.initials: FF
authors.lastname: Bi
authors.forename: Jing
authors.initials: J
authors.lastname: Li
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000235:genetics / Q000473:pathology*; D012189:Retrospective Studies
chemical_list: C484258:DMD protein, human; D016189:Dystrophin