Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form

BackgroundFacioscapolohumeral muscular dystrophy is characterized by a wide clinical variability; the underlying reasons and the relation between them and the genetic markers are still not clear. In fact, the different phenotypes could show a different disease progression and/or imply distinct genetic mechanisms. As clinical trials are approaching also for FSHD, the correct description and stratification of patients becomes mandatory. To address these matters, in 2016 the Italian Clinical Group for FSHD developed the Comprehensive Clinical Evaluation Form (CCEF), aimed at describing the different observed phenotypes in FSHD.MethodsA working group composed by the former developers of the CCEF and other expert clinicians re-evaluated the whole structure of the CCEF, to develop a simplified version for use in clinical practice; also, other expert clinicians not referring to the Italian Clinical Group for FSHD read and approved the CCEF revised version for its international use.ResultsWe present the CCEF-R, a revised and simplified version of the CCEF, that while maintaining all the core structure and items of the previous validated version, has been modified with new friendlier graphics, focused on the key anamnestic and neurological examination findings, to facilitate its understanding and use in clinical practice.ConclusionsThe phenotypical classification combined with the genetic signature should be considered during the diagnostic work out for guiding genetic analysis and for genotype-phenotype correlations and genetic counseling. The CCEF could have a significant role in the clinical stratification process of patients for clinical trials and in laying the groundwork for evidence-based medical decision making