Registry data to evaluate respiratory function in FSHD

American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular dystrophy (FSHD) :

  • all ventilatory parameters of patients in the registry were compiled and analysed over a period from 2008 to 2016,
  • only 20% of the 170 patients identified in the register had undergone respiratory function tests, as they were most often a- or pauci-symptomatic,
  • among those who had been ventilator-tested and/or monitored for several years, restrictive respiratory failure of varying severity (but generally moderate) was quite often observed.

The authors therefore recommend that follow-up of patients with FSHD should systematically include an initial respiratory assessment and at regular intervals as necessary.

 

Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. Mathews KD, Suhl J, Conway KM et al. Neuromuscul Disord. 2024.