Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

Giacomo Della Marca, Emanuele Scarano, Tommaso Pirronti, Enzo Ricci, Roberto Frusciante, Serena Dittoni, Catello Vollono, Elisabetta Iannaccone, Alessandro Cianfoni, Salvatore Mazza, Pietro Attilio Tonali, Cristina Buccarella, Monica Rossi

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)54-58
Number of pages5
JournalJournal of the Neurological Sciences
Publication statusPublished - 2009


  • Facioscapulohumeral muscular dystrophy
  • sleep

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