The FSHD jigsaw: are we placing the tiles in the right position?

Figures

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  FIGURE 1. Main topics and trajectories of FSHD literature reports in the last 18 months. A. Pie chart representing the distribution of the selected papers as a percentage over the total (n = 121) based on the keywords reported in figure legend; B FSHD research trajectories over time. Data are plotted as a percentage of the total at different time points. Analysis was performed by considering 10-year timeframes between the first publication and today. Keywords are reported in the figure legend. FSHD, facioscapulohumeral muscular dystrophy.

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  FIGURE 2. Solving the FSHD puzzle requires a multistep and multimodal approach. The wide phenotypic spectra observed in carriers of D4Z4 reduced allele suggest the existence of clinical subgroups within the FSHD population. Patients’ stratification relies on the combination of genomic, anamnestic, and standardised clinical data for defining disease natural history associated with the distinct phenotypes. These steps are necessary to develop appropriate outcome measures and biomarkers and to proceed toward personalized trial readiness for FSHD patients. FSHD, facioscapulohumeral muscular dystrophy.