Objectives: Spinal Muscular Atrophy (SMA), a rare genetic neuromuscular disorder, is characterized by a loss of motor neurons leading to progressive muscle weakness, atrophy and functional limitations. This study was conducted to explore: which mobility gains are important in later-onset SMA (Type II or III) from the caregiver and patient perspective and how they map onto the Hammersmith Functional Motor Scale Expanded (HFMSE). Methods: In 2017, a Web-based survey of SMA Type II/III was administered to caregivers (CG) of affected children and adult patients (AP) to assess the importance of specific mobility gains and determine how SMA impacts physical functioning, activities of daily living (ADLs) and health-related quality of life (HRQOL). Follow-up telephone interviews were conducted among a sub-sample of survey participants to explore identified themes and discuss relevance of HFMSE items. Results: The survey was completed by 36 CG and 52 AP. Interviews were conducted with 20 CG and 21 AP. Affected children were aged 2-17 years; AP were 20-77 years. Both Type II/III participants voiced the desire to gain the ability to walk above all other physical functions and reported self-care and independence as important impacts. Type II participants also desired basic motor functions such as increased strength, arm use, sitting, and rolling. Type III participants desired standing, using stairs, and core and full body use. CG cited their child's independence, whereas AP focused on self-reliance and the ability to perform ADLs, as important themes. All HFMSE items equate to some physical function that was important to participants with either SMA Type II/III, covering the full range of relevant physical mobilities identified. Conclusions: Even basic improvements in the physical functions on the HFMSE can have real impact upon later-onset SMA patients in terms of mobility, ADLs, and HRQOL. Activities were dependent upon current mobility level.
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