Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings

•There have been many recent developments in the field of FSHD2 research.•FSHD2 is a digenic disease associated with mutations in SMCDH1, DNMT3B, and LRIF1.•Mutations in other genes such as FAT1, CAPN3, and VCP can mimic FSHD phenotypes.•FSHD2 is largely indistinguishable from FSHD1, apart from age at onset/inheritance.•We suggest a genetic testing algorithm for FSHD phenotypes.