title: Sleep quality in Facioscapulohumeral muscular dystrophy.
abstract: OBJECTIVE
  To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles.
  
  
  METHODS
  Forty-six patients were enrolled, 27 women and 19 men, mean age 43.6+/-14.1 years. Study protocol included: a Clinical Severity Scale (CSS) for FSHD, Pittsburgh Sleep Quality Index (PSQI), Italian version of the Epworth Sleepiness Scale (ESS) and the search for clinical predictors of sleep-related airways obstruction.
  
  
  RESULTS
  Twenty-seven patients presented snoring, 12 reported respiratory pauses during sleep. One half (23/46) had PSQI scores above the normal threshold (=5). Correlations were found between the CSS and: the total PSQI score, the components C1 sleep quality, C5 sleep disturbances, C7 daytime dysfunction.
  
  
  CONCLUSIONS
  Our data support the hypothesis that patients with FSHD have an impaired sleep quality, and that this impairment is directly related to the severity of the disease. A systematic polysomnographic evaluation of these patients will be necessary to confirm the presence of sleep disruption and to clarify its pathogenesis.
authors.affiliation: Department of Neurosciences, Catholic University, 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: Catello
authors.initials: C
authors.lastname: Vollono
authors.forename: Serena
authors.initials: S
authors.lastname: Dittoni
authors.forename: Giuliana
authors.initials: G
authors.lastname: Galluzzi
authors.forename: Cristina
authors.initials: C
authors.lastname: Buccarella
authors.forename: Anna
authors.initials: A
authors.lastname: Modoni
authors.forename: Salvatore
authors.initials: S
authors.lastname: Mazza
authors.forename: Pietro Attilio
authors.initials: PA
authors.lastname: Tonali
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications*; D017286:Polysomnography / Q000379:methods; D012720:Severity of Illness Index; D012890:Sleep / Q000502:physiology*; D012893:Sleep Wake Disorders / Q000209:etiology*; D013223:Statistics as Topic