Article
Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroup.
Neuromuscular disorders : NMD - 1 May 2026
Tammam Giulia, Dhifallah Sandra, Yang Hongmei, Gambella Manuela, Pini Jonathan, Butterfield Russell J, Carraro Elena, Eichinger Katy, Elsheikh Bakri, Johnson Nicholas E, Leung Doris G, Lewis Leann, Martens William B, Mul Karlien, Sansone Valeria A, Shieh Perry B, Wagner Kathryn R, Wang Leo H, Walker Michaela, Tawil Rabi, Statland Jeffrey M, Sacconi Sabrina
Abstract excerpt
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) shows marked clinical heterogeneity, partly related to age at onset. We analysed baseline, 12- and 24-month follow-up data from 231 FSHD1 patients enrolled in the ReSolve study (NCT03458832) to compare clinical, genetic, and epidemiological features between adult-onset (n = 190) and late-onset (n = 41) patients. Differences were assessed using generalized...
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