Analysis reveals genotype impacts functional disease progression in Duchenne muscular dystrophy, suggesting AI may aid personalized care.
Background/Purpose: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder with progressive muscle degeneration. Although its genetic basis is well characterized, the functional disease progression varies widely between individuals. This project aims to analyze the relationship between genotype (e.g., mutation type, location, and affected dystrophin isoforms) and functional decline. Based on these patterns, an artificial intelligence (AI)-based model will be developed to predict individual disease trajectories and support personalized care.
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Hörnö-Reissner et al. (2025) studied this question.
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