Science News: Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy 5/16/2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies, presenting as slowly progressive, often asymmetric muscle weakness. Although a gain-of-toxic function secondary to aberrant DUX4 expression is the known etiology, exact pathomechanism is not known. Inflammatory reactions are sometimes seen in muscle biopsies, leading to speculation of the role of inflammatory pathway activation in disease pathogenesis. This retrospective study analyzed serum cytokines in 100 FSHD1 patients to identify potential biomarkers.