Correlation of Genetic Spectrum of Children with Duchenne Muscular Dystrophy with Clinical Phenotype-A one-year Prospective Cohort study at a tertiary care centre

Duchenne Muscular Dystrophy DMD is the most common and severe childhood muscular dystrophy affecting 1 in 3500 to 5000 boys. It is an X linked recessive disorder caused by mutations in the dystrophin gene located at Xp21.1 leading to absence of functional dystrophin protein. Affected children present with progressive muscle weakness delayed milestones and usually lose ambulation by adolescence followed by respiratory and cardiac complications. Genetic mutations are heterogeneous with deletions 60 to 65 percent most frequent followed by duplications and point mutations. Identifying mutation type is essential for diagnosis counseling and eligibility for emerging mutation specific therapies. This prospective cohort study at KLE Dr Prabhakar Kore Hospital Belagavi will enroll 41 genetically confirmed DMD patients over one year. Clinical evaluation motor milestones ambulation status muscle strength functional tests ECG spirometry will be correlated with genetic findings MLPA WES. The study aims to define the genetic spectrum and establish genotype phenotype correlations in North Karnataka to improve diagnosis and therapeutic access.