In patients with facioscapulohumeral muscular dystrophy (FSHD) it is known what the genetic origin of the disease is, but unknown how it is initiated and propagates along muscles. In a cross-sectional and longitudinal study we analyzed fat infiltration in lower leg muscles, tendon-to-tendon, with a 3D Dixon method. This revealed that fat infiltration starts with a distal “fat burst” in the first years of its initiation after which fat replacement further proceeds in a slower pace towards the proximal tendons. This indicates that the disease is triggered by an event typical for the distal parts of lower extremity muscles.
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