Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy

We describe a rare case of a patient with concomitant DMD and SMA. When a patient's phenotype cannot be explained by a single genetic disorder, the possibility of multiple genetic disorders coexisting due to multiple mutations must be considered. OGM is a valuable diagnostic tool for determining the pathogenicity of DMD exon duplications, as it can definitively establish their genomic location and structure.