title: Restrictive lung involvement in facioscapulohumeral muscular dystrophy.
abstract: BACKGROUND
  Few studies have evaluated the frequency or predisposing factors for respiratory involvement in facioscapulohumeral muscular dystrophy type 1 (FSHD1) and type 2 (FSHD2).
  
  
  METHODS
  We performed a prospective cross-sectional observational study of 61 genetically confirmed FSHD participants (53 FSHD1 and 8 FSHD2). Participants underwent bedside pulmonary function testing in sitting and supine positions, a standard clinical history and physical assessment, and manual muscle testing.
  
  
  RESULTS
  Restrictive respiratory involvement was suggested in 9.8% (95% confidence interval 2.4-17.3): 7.5% FSHD1 and 25.0% FSHD2 (P = 0.17). Participants with testing suggestive of restrictive lung involvement (n = 6) were more severely affected (P = 0.005), had weaker hip flexion (P = 0.0007), and were more likely to use a wheelchair (P = 0.01).
  
  
  CONCLUSIONS
  Restrictive respiratory involvement should be considered in all moderate to severely affected FSHD patients with proximal lower extremity weakness. The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients.
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642.
authors.forename: Michele A
authors.initials: MA
authors.lastname: Scully
authors.forename: Katy J
authors.initials: KJ
authors.lastname: Eichinger
authors.forename: Colleen M
authors.initials: CM
authors.lastname: Donlin-Smith
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Statland
mesh_terms: D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000145:classification / Q000150:complications* / Q000235:genetics; D011446:Prospective Studies; D012720:Severity of Illness Index; D014797:Vital Capacity / Q000502:physiology
keywords: FSHD1; FSHD2; muscle disease; prevalence studies; respiratory disease