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Objective of the Paper: To present a case study of progressive Duchenne – Becker muscular dystrophy (PMD) and demonstrate challenges and features of diagnosis of this pathology. Key Points. The article discusses a case of Duchenne – Becker PMD diagnosis in a 2-year old boy. We have described stages of diagnostic investigation and analysed the results of clinical observation and molecular genetic examination. We have proposed an examination algorithm for unexplained increase in aspartate aminotransferase (AAT), alanine aminotransferase (ALT) activity. Conclusion. This case of PMD demonstrates challenges faced by health care providers in diagnosis of this condition. Early clinical symptoms, increased blood AAT and ALT, creatine phosphokinase are a reason for a molecular genetic examination. This algorithm can be used to diagnose PMD in order to save efforts searching for a non-existent neurological pathology and infection, promptly prescribe an adequate therapy and improve the quality of patient’s life. Keywords: progressive Duchenne – Becker muscular dystrophy, molecular genetic examination, aspartate aminotransferase, alanine aminotransferase, creatine phosphokinase.

Progressive Duchenne — Becker Muscular Dystrophy.Challenges with Diagnosis