Abstract
Evaluating Functional Changes and Outcome Measure Responsiveness in Limb Girdle Muscular Dystrophy: A 12-month Analysis of the 10-meter Run Time, NSAD, and PUL (S7.002)
Neurology, Vol.106(11_Supplement_1)
06/09/2026
DOI: 10.1212/WNL.0000000000215235
Abstract
Objective
Evaluate the relationship between changes in patient-reported and functional outcome measures in patients with limb girdle muscular dystrophies (LGMD).
Background
Several clinical assessments have been validated in LGMD, supporting their use as potential therapeutic endpoints. However, understanding the relationship between patient-reported and functional outcomes is essential for interpreting the clinical meaningfulness of change. This study evaluates the relationship between patient-reported and functional outcome measure changes across multiple assessments in individuals with LGMD.
Design/Methods
Patients with genetically confirmed LGMD (n=86) completed functional assessments including the NorthStar Ambulatory Assessment (NSAD), Performance of Upper Limb (PUL), and 10-meter run, in addition to reported outcome measures including the Limb-Girdle Muscular Dystrophy Health Index (LGMD-HI). Patients were classified as improved/stable or declined based on change in reported outcomes between baseline and 12 months. Mean changes in functional outcomes based on patient-report grouping were then evaluated.
Results
86 patients (31 LGMDR9, 24 LGMDR1, 10 LGMDR12, 7 LGMDD1, 3 LGMDR2, 7 LGMDR3, 4 LGMDR5; mean age 31.7 years, range 6–64) completed baseline and 12-month visits. Mean 12-month change in the cohort was 1.9-point decrease on the NSAD, 1.4-point decrease on the PUL, and 0.6-second increase in 10 meter run time. Preliminary analysis of participants reporting decline on LGMD-HI item “limited mobility” at 12 months showed a 0.6-second increase in 10m run time and a 2.0-point decrease on the NSAD. In those reporting decline on LGMD-HI item “problems in shoulders/arms,” at 12 months, mean PUL decreased by 0.5 points.
Conclusions
Several clinical outcome measures detect decline in motor function over 12 months in LGMD. Patient perception of decline is associated with clinically observed change. These findings provide initial evidence of the magnitude of change in functional outcome measures that is meaningful to patients.
Details
- Title: Subtitle
- Evaluating Functional Changes and Outcome Measure Responsiveness in Limb Girdle Muscular Dystrophy: A 12-month Analysis of the 10-meter Run Time, NSAD, and PUL (S7.002)
- Creators
- Roshni Patel - Virginia Commonwealth UniversityLindsay Alfano - Nationwide Children's HospitalTahseen Mozaffar - University of California, IrvineKatherine Mathews - University of IowaConrad Weihl - Washington University in St. LouisJeffrey Statland - University of Kansas Medical CenterDoris Leung - Kennedy Krieger InstitutePeter Kang - University of Minnesota Medical CenterZineb Ammous - Indiana University HealthStacy Dixon - University of Colorado SystemJordi Diaz-Manera - Newcastle UniversityS Subramony - University of FloridaMatthew Wicklund - The University of Texas at San Antonio Health Science CenterNicholas Johnson - Virginia Commonwealth UniversityMichael Kiefer - Virginia Commonwealth University
- Resource Type
- Abstract
- Publication Details
- Neurology, Vol.106(11_Supplement_1)
- DOI
- 10.1212/WNL.0000000000215235
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 06/09/2026
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9985182282902771
Metrics
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