Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent forms of muscular dystrophy. The
aims of this study were: 1) to evaluate the prevalence of sleep disordered breathing (SDB) in patients with
FSHD; 2) to define the sleep-related respiratory patterns in FSHD patients with SDB; and 3) to find the clinical
predictors of SDB. Fifty-one consecutive FSHD patients were enrolled, 23 women, mean age 45.7±12.3 years
(range: 26–72). The diagnosis of FSHD was confirmed by genetic tests. All patients underwent medical and
neurological evaluations, subjective evaluation of sleep and full-night laboratory-based polysomnography.
Twenty patients presented SDB: 13 presented obstructive apneas, four presented REM related oxygen
desaturations and three showed a mixed pattern. Three patients needed positive airways pressure. SDBwas not
related to the severity of the disease. Body mass index, neck circumference and daytime sleepiness did not
allow prediction of SDB. In conclusion, the results suggest a high prevalence of SDB in patients with FSHD. The
presence of SDB does not depend on the clinical severity of the disease. SDB is often asymptomatic, and no
clinical or physical measure can reliably predict its occurrence. A screening of SDB should be included in the
clinical assessment of FSHD.