Practical Course DMD 01. Genetics in DMD

This course provides a comprehensive and up-to-date overview of Duchenne muscular dystrophy from a clinical and genetic perspective. Throughout the course, the most relevant clinical features of the disease, its progression, and the main associated complications are reviewed, including respiratory, cardiac, and, in some cases, cognitive involvement. The course explores in depth the molecular basis of the disease, focusing on the DMD gene and the role of dystrophin in maintaining muscle fiber stability, as well as the different types of genetic variants responsible for dystrophinopathies. The course also presents in detail the diagnostic algorithm used in clinical practice, from the initial use of MLPA to detect large deletions or duplications, to next-generation sequencing for the identification of point variants. In addition, complementary strategies for complex cases are addressed, including RNA analysis, muscle biopsy, and new long-read sequencing technologies, which enable the detection of structural alterations and the study of methylation patterns with greater precision. Overall, the course integrates recent advances in molecular genetics with clinical practice, providing a solid foundation for the accurate diagnosis of the disease.