Bearing in mind the complex etiopathogenesis underlying FSHD, of which, a fundamental hallmark is the expression of DUX4, the assessment of transcriptome signatures strictly related to FSHD and particularly to the effects of DUX4 activation is of paramount importance for the characterization of disease and the research of clinically useful diagnostic, prognostic and therapeutic markers. The gene discussed is DUX4; the disease is facioscapulohumeral muscular dystrophy.