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. 2019 May 7;92(19):e2273–e2285. doi: 10.1212/WNL.0000000000007456

Figure 4. Facioscapulohumeral dystrophy type 1 (FSHD1) and facioscapulohumeral dystrophy type 2 (FSHD2), a disease continuum.

Figure 4

Patients with FSHD1 have a contraction of the D4Z4 repeat to a size of 1–10 repeat units (RU) (X-axis). Patients with FSHD2 show hypomethylation of the DR1 region in the presence of a normal sized D4Z4 repeat of 11–20 RU (Y axis). FSHD1+2 can be considered part of a FSHD disease continuum characterized by a contraction of the D4Z4 repeat (9–10 RU) and a hypomethylation status of the DR1 region because of mutations in D4Z4 chromatin modifiers.