The National Diagnostic and Care Protocol (PNDS) for facioscapulohumeral muscular dystrophy (FSHD) was published in France at the very end of 2021. A recent article published in the Journal of Neurology takes up the main points, focusing in particular on :
- the diagnosis, which is sometimes complex for clinical and/or genetic reasons, with the publication offering a decision tree and a table detailing the various differential diagnoses (hereditary inclusion myopathy linked to VCP, LGMD, myositis, Pompe disease, etc.),
- treatment, which is optimal if it is multidisciplinary, coordinated by a Centre of Reference or Competence, supported by regular follow-up (six-monthly in children, annual or biannual in adults) and which currently relies mainly on physiotherapy, with the article also covering adapted physical activity.
Note that pain assessment should be systematic in FSHD, with around half of patients suffering from chronic muscular, joint or ligament pain.
