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The main findings describe pervasive inflammation and heterogeneity of affected calf muscles in FSHD (N=15, versus controls N=10). Two genotypic individuals without marked symptoms also demonstrated edema in gastrocnemius, a region affected in the majority of FSHD subjects. Edema likely represents an important transitional state between healthy muscle and fatty replacement. This suggests that more detailed characterization of the rate and reversibility of edema are an important to define in future work.
Our primary aim in a follow-up study would be to focus on understanding the longitudinal progression of edema and fat changes across the entire lower legs. Since the thigh is thought to be affected earlier, this gradient between thigh and calf may be illustrative. The recent article (Frisullo 2010 J Clin Immunol) describing cytokines in inflamed muscle may be a good model for overlap. We believe that large muscle groups would also be important to study as they may change more rapidly. These would be evaluated with a year gap.
— Seth Friedman