Clinical and pathological features of limb-girdle muscular dystrophy type 2B / 临床神经病学杂志

ABSTRACT

Objective To investigate the clinical and pathological features of limb-girdle muscular dystrophy type 2B(LGMD2B).Methods The clinical data and the pathological result of skeletal muscle in five patients with LGMD2B were analyzed retrospectively.Results Five patients presented muscle atrophy and weakness(four limbs in three patients and both lower limbs in two patients),and the chronic onset,and the progressive deterioration.The pathological examination showed that the muscle fibers degenerating,necrotic and regenerating in different extents were observed,and the infiltration of inflammatory cells were appeared on all of cases.Immunohistochemical stains showed that the expression of anti-dysferlin monoclonal antibody was negative,anti-Dystrophy,Sarcoglycan and dystroglycan monoclonal antibodies were positive normaly,anti-CD8+T cell monoclonal antibody was negative,and anti-MHC-1 monoclonal antibody was up-regulated in five patients.Conclusions The clinical characters of LGMD2B are chronic onset,progressive muscle atrophy and weakness in four limbs or both lower limbs.The pathological characters of LGMD2B are similar to the changes of polymyositis.