Objective: Immunohistochemistry using antibodies to dystrophin is the pathological basis for the differential diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD). In rare cases, however, labelling dystrophin on sarcolemma is equivocal and similar to that observed in controls. This makes the diagnosis of BMD difficult. This study aimed to explore the diagnostic value of neuronal nitric oxide synthase (nNOS) antibody for clinically suspected BMD.
Methods: Immunohistochemical staining was performed on muscle specimens of 5 cases of BMD with positive expression of Dys-C (3 cases had a confirmed diagnosis of BMD, 2 cases were clinically suspected as BMD) by using dystrophin and nNOS antibodies. Normal muscle specimens from the children with fracture were used as controls.
Results: Compared with the controls, the expression of Dys-R, Dys-C and Dys-N was markedly reduced and nNOS was not expressed on sarcolemma in the three cases of definitely diagnosed BMD. The two cases of clinically suspected as BMD had a complete absence of sarcolemmal nNOS, even if had a similar expression of dystrophin on sarcolemma to the controls.
Conclusions: nNOS antibody staining can be used for a definite diagnosis in children with clinically suspected BMD who have the almost normal expression of dystrophin.