Prevalence* of FSHD estimated to be 4 per 100,000 by Orpha.net. Now estimated at 1 in 7,500
FSHD Global Research Foundation established
DUX4 is shown to be toxic to muscle cells and increased amounts of DUX4 are seen in muscle cells from people with FSHD
The link between reduced D4Z4 regions and increased amounts of protein from genes in that area is first described.
The DUX4 gene discovered
Identical twins are discovered who have the exact same genetic mutation, but very different symptoms.
FSHD Region Gene 1 (FRG1) is discovered beside the D4Z4
Sequencing of the region associated with FSHD shows that it does contain a gene, but that the D4Z4 region does not.
The region associated with FSHD is found to have multiple repeat units (D4Z4) with FSHD being associated with fewer than 11 D4Z4 units.
FSHD is linked to recombination event that shortens a region in the 4q35 area