American clinicians studied a large cohort of children followed at the only neuromuscular consultation in Cincinnati (USA) for Duchenne muscular dystrophy (DMD):
- 555 patients were included in the study,
- All were receiving long-term corticosteroid therapy (at least 12 months), but without any associated innovative therapy,
- age at loss of walking was chosen as the main criterion for judging the severity of the phenotype,
- In line with previous studies, several genotypes were found to be less severe, with a mean loss of walking after the 14th year,
- This was the case for duplications of exon 2 of the DMD gene, deletions in the region of exons 3 to 7, and deletions that could benefit from therapeutic skipping of exon 44.
This single-centre study will be very useful for improving therapeutic trials in these sub-populations of DMD patients.
