Modifying effects of genetic mutations on Duchenne muscular dystrophy progression


  • In patients with Duchenne muscular dystrophy (DMD), slower progression in lower limb muscle fatty infiltration is seen in patients amenable to exon 8 skipping, and those with nonsense mutations in exons associated with milder phenotypes.

Why this matters?

  • The clinical heterogeneity of DMD is linked to genetic modifiers of disease progression. However, evidence in literature has not been consistent.

  • Being able to predict an individual’s disease trajectory will help to tailor patient management, as well as informing clinical trial designs and data interpretation.