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.