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• W2023791290 abstract "Introduction: 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. Muscle Nerve, 2012" @default.
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• W2023791290 date "2012-11-26" @default.
• W2023791290 modified "2023-10-03" @default.
• W2023791290 title "Patient-identified disease burden in facioscapulohumeral muscular dystrophy" @default.
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• W2023791290 doi "https://doi.org/10.1002/mus.23529" @default.
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