Muscular dystrophies and the role of dystrophin in their diagnosis

Muscular dystrophies [MD] traditionally refer to a group of genetically determined, progressive, degenerative disorders of the skeletal muscle. The most common disease manifestations being Duchenne Muscular Dystrophy [DMD] and Becker Muscular Dystrophy [BMD]. This descriptive study was carried out on 40 patients of muscular dystrophies, selected on clinical grounds and subjected to biochemical, morphological and immunohistochemical analysis. Muscle biopsies were taken from patients by an open method and formalin fixed paraffin embedded blocks were made. Haematoxylin and Eosin stain, PAS and Gomori's trichrome and immunohistochemical stains were conducted on the sections from these blocks. Dystrophin and beta - Spectrin antibodies were used for immunohistochemistry. Among the 40 cases of muscular dystrophy the above investigations were correlated with clinical findings to reach the final diagnosis in each case. In Pakistan the diagnosis of muscular dystrophies is still based on clinical grounds and CPK values only, however the present study has provided us an opportunity to combine clinical, biochemical, morphlogical and immunohistochemical evaluations of the patients with muscular dystrophies. It was concluded from this study that although muscular dystrophy can be diagnosed using clinical parameters and CPK levels, histochemistry and IHC can confirm and differentiate the various types of muscular dystrophy and make it possible to identify the female patients of DMD and BMD