An Italian multicentre study has shown that changes in upper limb muscle strength (Performance of Upper Limb version 2.0 (PUL) global, shoulder and elbow scores) over 24 months are significantly different according to the DMD gene deletions eligible for certain exon skipping.
The results relate to 215 participants with Duchenne muscular dystrophy (DMD) having a deletion eligible for one of the following four exon skipping: exon skipping 44 (27 boys), 45 (25 boys), 51 (34 boys) and 53 (24 boys).
- At 12 months, the mean value of the change in PUL scores was not significantly different from one exon skipping class to another, but it was at 24 months.
- Patients eligible for exon skipping 44 had better initial PUL scores and a less marked decline over two years than patients eligible for exon skipping 53.
- There was no difference in the evolution of PUL scores over 24 months between the different types of mutations (deletions, duplications, point mutations) or between ambulant and non-ambulant patients.
