title: Sleep disordered breathing in facioscapulohumeral muscular dystrophy.
abstract: 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. SDB was 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.
authors.affiliation: Department of Neurosciences, Catholic University, Policlinico Universitario A. Gemelli L.go A. Gemelli, 8, 00168 Rome, Italy. dellamarca@rm.unicatt.it
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.forename: Roberto
authors.initials: R
authors.lastname: Frusciante
authors.forename: Serena
authors.initials: S
authors.lastname: Dittoni
authors.forename: Catello
authors.initials: C
authors.lastname: Vollono
authors.forename: Cristina
authors.initials: C
authors.lastname: Buccarella
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Iannaccone
authors.forename: Monica
authors.initials: M
authors.lastname: Rossi
authors.forename: Emanuele
authors.initials: E
authors.lastname: Scarano
authors.forename: Tommaso
authors.initials: T
authors.lastname: Pirronti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Cianfoni
authors.forename: Salvatore
authors.initials: S
authors.lastname: Mazza
authors.forename: Pietro A
authors.initials: PA
authors.lastname: Tonali
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
mesh_terms: D000328:Adult; D000368:Aged; D015992:Body Mass Index; D002508:Cephalometry; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D009333:Neck / Q000473:pathology; D009460:Neurologic Examination; D017286:Polysomnography; D011175:Positive-Pressure Respiration; D015995:Prevalence; D012119:Respiration; D012720:Severity of Illness Index; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D011795:Surveys and Questionnaires; D014851:Wakefulness