title: Patient-identified disease burden in facioscapulohumeral muscular dystrophy.
abstract: BACKGROUND
  The multitude of symptoms associated with facioscapulohumeral muscular dystrophy (FSHD) disease burden are of varying importance. The extent of these symptoms and their cumulative effect on the FSHD population is unknown.
  
  
  METHODS
  We conducted interviews with adult FSHD patients to identify which symptoms have the greatest effect on their lives. Each interview was recorded, transcribed, coded, and analyzed using a qualitative framework technique, triangulation, and a three-investigator consensus approach.
  
  
  RESULTS
  One thousand three hundred seventy-five quotes were obtained through 20 patient interviews. Two hundred fifty-one symptoms of importance were identified representing 14 themes of FSHD disease burden. Symptoms associated with mobility impairment, activity limitation, and social role limitation were most frequently mentioned by participants.
  
  
  CONCLUSIONS
  There are multiple themes and symptoms, some previously underrecognized, that play a key role in FSHD disease burden.
authors.affiliation: Department of Neurology, University of Rochester, 601 Elmwood Avenue, P.O. Box 673, Rochester, New York 14642, USA. Nicholas_johnson@urmc.rochester.edu
authors.forename: Nicholas E
authors.initials: NE
authors.lastname: Johnson
authors.forename: Christine
authors.initials: C
authors.lastname: Quinn
authors.forename: Eileen
authors.initials: E
authors.lastname: Eastwood
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
authors.forename: Chad R
authors.initials: CR
authors.lastname: Heatwole
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007406:Interview, Psychological; D008297:Male; D008875:Middle Aged; D008960:Models, Psychological; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000453:epidemiology* / Q000503:physiopathology / Q000523:psychology*; D011788:Quality of Life; D055815:Young Adult