However, FSHD2 individuals had a classical FSHD phenotype and did not have a D4Z4 repeat array contraction, but did show a strong reduction of D4Z4 methylation, suggesting that the common feature of FSHD1 and FSHD2 was decreased epigenetic repression of D4Z4 [66,68]. Here, SMCHD1 is linked to Facioscapulohumeral dystrophy.