Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the
dystrophin protein. A resolutive
therapy for DMD is not yet available. The first approved
drug for DMD patients with
nonsense mutations is
ataluren, approved for the treatment of children aged ≥ 2 yrs, that seems effective in slowing the
disease progression. An earlier introduction of
ataluren seems to give better results. We report the case of a 14-year-old DMD patient with a
nonsense mutation in exon 70, still ambulant, who started taking
ataluren at 12 years and remained stable for the following two years. The patient was on
steroid since the age of 6, with beneficial effects. At two-years follow-up, an optimal disease evolution was observed, associated with a constant decrease of
creatine kinase blood levels. Despite the late start of the treatment,
ataluren seems to have significantly contributed to the stabilization of the functional status in this patient though it cannot be excluded that the result may have been influenced by the previous favorable course of the disease. However, further studies should be planned in patients with similar age treated with
ataluren to better evaluate the treatment's results compared to the natural course of the disease.