Abstract
Currently, there is no curative therapy for Duchenne muscular dystrophy (DMD), but several clinical trials are in progress. It is important to confirm diagnosis using molecular biology techniques. We discuss the molecular approach to diagnosis, limitations of various diagnostic methods and relevance in the light of various emerging therapies. Methods: We retrospectively studied 35 children, aged 3 to 18 years, with clinical phenotype of DMD and study of the dystrophin gene. Results and conclusion: 34 of the 35 children had a confirmed genetic diagnosis. One patient with negative genetic analysis had undergone muscle biopsy and immunohistochemistry for confirmation. New emerging therapies and clinical trials in this field demand an accurate diagnosis, especially when therapy is targeted towards specific mutations. In cases with no specific mutations, final diagnosis needs to be confirmed as well as other dystrophies ruled out in order to guide prognosis, preventive strategies, and family counselling.
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