Why the study?
Increasing complexity of FSHD1 and FSHD2 genetics, more testing centers, and emerging clinical trials created a need to update the 2012 gold standard diagnostic guidelines and renew international consensus.
Provides updated international consensus on molecular testing recommendations for FSHD to aid clinical management and trial readiness.
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Provides updated minimal requirements for FSHD genetic confirmation; extends 2012 guidelines to incorporate new technologies.
Giardina et al. (2024) conducted a review in Facioscapulohumeral muscular dystrophy (FSHD). Genetic diagnostics was evaluated on Minimal requirements and recommendations for genetic confirmation of FSHD1 and FSHD2. An international consensus updated the 2012 guidelines, establishing minimal requirements and recommendations for the genetic confirmation of FSHD1 and FSHD2 using established and new technologies.
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