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Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

ABSTRACT: 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.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.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.There are multiple themes and symptoms, some previously underrecognized, that play a key role in FSHD disease burden.

SUBMITTER: Johnson NE

PROVIDER: S-EPMC4097080 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature

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Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

Johnson Nicholas E NE Quinn Christine C Eastwood Eileen E Tawil Rabi R Heatwole Chad R CR

Muscle & nerve 20121201 6

<h4>Introduction</h4>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.<h4>Methods</h4>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 t ...[more]

PMID: 23225386

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Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation.

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A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.

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