Immunohistochemical Staining with Anti-Torpedo Dystrophin Antibody in Duchenne Type Muscular Dystrophy

ABSTRACT

Duchenne Muscular dystrophy(DMD) is a debilitating X-linked muscle disease and dyskophin is a muscle membrane protein, which is recently discovered through reverse genetics by Kunkel et al(1987). We evaluate the dystrophin distribution by irnmunohistochemical staining with anti Torpedo dyskophin antibody in the muscle biopsy materials from 11 clinically and pathologically diagnosed Duchenne type muscular dyskophy and 23 controls of other neuromuscular disorders or normal amputed legs. Normal staining of dystrophin were found in all the muscle preparation from 23 controls. In 10 of 11 pahents with Duchenne type muscular dyskophy diagnosed clinically and pathologically, reaction to anti-Torpedo dystrophin antibody was absent or markedly deficient. However, in one subject with definite DMD clinically, the immunostaining showed normal dense staining. He was a 5-year-old boy who was presented with abdominal pain and general muscle weakness, and his final diagnosis were choledocal cyst and Duchenne muscular dyskophy. Therefore it could be concluded that the immunohistochemical staining with anti-Torpedo dystrophin antibody should prove helpful in delineatior of myopathies that overlap clinically with Duchenne type progressive muscular dyskophies and it shows prornise as an accurate tool for the diagnosis of DMD and for the evaluation of therapeutic effects.