Despite substantial advances in its pathophysiology, muscular dystrophy or facioscapulohumeral myopathy (FSHD) remains a complex muscular disease with at least two genes involved. An international consortium has revised the 2012 recommendations on genetic diagnosis:
- the European consortium dedicated to clinical trials in FSH took the lead on this revision following an ENMC workshop devoted to this subject in 2022,
- experts from the United States, India, Japan, Australia, South Africa and Brazil were added,
- the entire consortium took part in six sessions to exchange ideas and compare practices, taking into account new technologies such as molecular combing and opto-genomic mapping,
- diagnostic procedures were standardised for both FSHD1 and FSHD2, including prenatal diagnosis.
This revision was all the more necessary and useful given the growing number of clinical trials in the field of FSHD.
