Affiliations: [a] Department of Neurology, University of Utah School of Medicine, North Medical Drive East, Salt Lake City, UT, USA
| [b] Department of Neurology, University of Rochester School of Medicine and Dentistry, Elmwood Ave, Rochester, NY, USA
Correspondence to: Michael Hunter, MD, Department of Neurology, University of Utah, 175 North Medical Drive East Salt Lake City, UT 84132, USA. Tel.: +1 801 597 8448; Fax: +1 844 255 0408; E-mail: [email protected].
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.
Keywords: Muscular atrophy, spinal, quality of life, signs and symptoms, neuromuscular diseases