title: What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients.
abstract: There are multiple symptoms that affect adults with spinal muscular atrophy (SMA). The extent of these symptoms and their impact on individuals' lives is not fully known. We interviewed 15 adults with genetically confirmed SMA. Participants were asked to identify issues that have significant impact on their lives. Interviews were recorded, transcribed, coded, and analyzed. Participants provided 1045 direct quotes. 177 potential symptoms of importance were identified. Symptoms were grouped by like topics into fourteen symptomatic themes. The symptoms and issues identified by SMA patients alter their physical, mental, and social health and may be amendable to therapeutic intervention.
authors.affiliation: Department of Neurology, University of Utah School of Medicine, North Medical Drive East, Salt Lake City, UT, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Hunter
authors.affiliation: Department of Neurology, University of Rochester School of Medicine and Dentistry, Elmwood Ave, Rochester, NY, USA.
authors.forename: Chad
authors.initials: C
authors.lastname: Heatwole
authors.affiliation: Department of Neurology, University of Rochester School of Medicine and Dentistry, Elmwood Ave, Rochester, NY, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Luebbe
authors.affiliation: Department of Neurology, University of Utah School of Medicine, North Medical Drive East, Salt Lake City, UT, USA.
authors.forename: Nicholas E
authors.initials: NE
authors.lastname: Johnson
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D036301:Qualitative Research; D011788:Quality of Life; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology* / Q000523:psychology; D055815:Young Adult
keywords: Muscular atrophy; neuromuscular diseases; quality of life; signs and symptoms; spinal