FSHD combined with genuine myositis: an intriguing association

A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies:

  • firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by molecular biology, and secondly, myositis authenticated by the presence of specific autoantibodies,
  • of the 5 cases of this type identified in the myositis database of the Pitié-Salpêtrière Hospital (1,750 cases listed) and the Italian Sant’Andrea Hospital (200 FHSD), two had initially been diagnosed as FSHD,
  • for two others, myositis preceded the diagnosis of FSHD,
  • in the last case, the two diagnoses were made at the same time.

The authors put forward a number of hypotheses to explain the reasons for this association, which may not be purely coincidental.

 

High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay? Lauletta A, Allenbach Y, Béhin A, Evangelista T, Léonard-Louis S, Garibaldi M, Benveniste O. J Neurol Sci. 2025 Mar 15;470:123400.