Current FSHD molecular testing relies on complex, multistep and low-resolution assays, which aim to identify contractions on permissive haplotypes (FSHD type 1) or epigenetic reactivation due to pathogenic variants in the epigenetic machinery, most often in <i>SMCHD1</i> (FSHD type 2). Here, SMCHD1 is linked to facioscapulohumeral muscular dystrophy.