Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1

INTRODUCTION/AIM: The Myotonic Dystrophy Health Index (MDHI) is a patient-reported outcome measure assessing disease burden in DM1. In prior cross-sectional studies, the MDHI correlated with disability status and with several functional measures and activities of daily living. To aid its use and interpretation, we investigated the longitudinal performance of MDHI. METHODS: Patients with genetically confirmed DM1 were enrolled as part of an observational longitudinal study within the Myotonic Dystrophy Clinical Research Network (DMCRN). Internal consistency and construct validity were evaluated to confirm previous findings. Both the Minimal Detectable Change (MDC) and the Minimal Clinically Important Difference (MCID) were calculated using distribution- and anchor-based methods, respectively. Sensitivity to change and responsiveness were also investigated, along with potential factors associated with the progression of overall burden. RESULTS: 451 DM1 patients were assessed, with 147 completing 24-month follow-up. The MDHI showed excellent internal consistency (α = 0.95) and confirmed construct validity. MDC for the total score ranged from ±4.24 (effect size change-based approach) to ±9.72 (Standard Error Method-based approach) points, while MCID ranged from small changes (-0.12 improvement/+1.25 worsening) to large changes (-2.17 improvement/+4.71 worsening). Changes in MDHI total and subscale scores were statistically significant at individual- or subgroup-levels and consistently mirrored changes in corresponding clinical measures. DISCUSSION: The MDHI demonstrates robust sensitivity and responsiveness to individual and subgroup-level changes in disease burden, offering valuable insights into patient-perceived progression. These findings support MDHI use over time and as a potential additional outcome measure at subgroup levels in clinical trials.

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Publication Details

Journal
Muscle & Nerve
Published
2026-05-11
DOI
https://doi.org/10.1002/mus.70277
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1

Erin DeSpain, Carola R. Ferrari Aggradi, Ruby Langeslay, Charles A. Thornton et al.
Muscle & Nerve
Genetic Neurodegenerative Diseases
article

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1

Erin DeSpain, Carola R. Ferrari Aggradi, Ruby Langeslay, Charles A. Thornton, Chamindra G. Laverty, Karlien Mul, B Schoser, Thomas Ragole, Andrea Lizio, Emma Matthews, Perry Shieh, Chris Turner, M Takahashi, Richard H. Roxburgh, Maria Beretta, Kate Eichinger, Valeria A. Sansone, Ericka P. Greene, Jeanne Dekdebrun, Chad Heatwole, Lucia C. Greco, Andrea Swenson, Jacinda Sampson, Jennifer Raymond, Jeffrey M. Statland, Johanna Hamel, Bakri Elsheikh, Matthew Wicklund, Nicholas E. Johnson, Man Hung, Cynthia Gagnon, Jacopo L. Casiraghi, Sub Subramony
article en

Abstract

INTRODUCTION/AIM: The Myotonic Dystrophy Health Index (MDHI) is a patient-reported outcome measure assessing disease burden in DM1. In prior cross-sectional studies, the MDHI correlated with disability status and with several functional measures and activities of daily living. To aid its use and interpretation, we investigated the longitudinal performance of MDHI. METHODS: Patients with genetically confirmed DM1 were enrolled as part of an observational longitudinal study within the Myotonic Dystrophy Clinical Research Network (DMCRN). Internal consistency and construct validity were evaluated to confirm previous findings. Both the Minimal Detectable Change (MDC) and the Minimal Clinically Important Difference (MCID) were calculated using distribution- and anchor-based methods, respectively. Sensitivity to change and responsiveness were also investigated, along with potential factors associated with the progression of overall burden. RESULTS: 451 DM1 patients were assessed, with 147 completing 24-month follow-up. The MDHI showed excellent internal consistency (α = 0.95) and confirmed construct validity. MDC for the total score ranged from ±4.24 (effect size change-based approach) to ±9.72 (Standard Error Method-based approach) points, while MCID ranged from small changes (-0.12 improvement/+1.25 worsening) to large changes (-2.17 improvement/+4.71 worsening). Changes in MDHI total and subscale scores were statistically significant at individual- or subgroup-levels and consistently mirrored changes in corresponding clinical measures. DISCUSSION: The MDHI demonstrates robust sensitivity and responsiveness to individual and subgroup-level changes in disease burden, offering valuable insights into patient-perceived progression. These findings support MDHI use over time and as a potential additional outcome measure at subgroup levels in clinical trials.

Muscle & Nerve
University of Iowa (US), Houston Methodist (US), Radboud University Nijmegen (NL), University of Auckland (NZ), University of California, Los Angeles (US), The University of Texas at San Antonio Health Science Center (US), Queen Mary University of London (GB), Virginia Commonwealth University (US), University of Milan (IT), Roseman University of Health Sciences (US), University of Utah (US), St George’s University Hospitals NHS Foundation Trust (GB), The Ohio State University Wexner Medical Center (US), Radboud University Medical Center (NL), University of Rochester Medical Center (US), University of Florida (US), University of California San Diego (US), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean (CA), Centro Clinico Nemo (IT), University of Kansas Medical Center (US), Friedrich Baur Stiftung (DE), Brain Research New Zealand (NZ), University College London (GB), University of Colorado Anschutz Medical Campus (US), Ludwig-Maximilians-Universität München (DE), Florida College (US), Stanford University (US), The University of Osaka (JP)
Myotonic Dystrophy Foundation, Pfizer, Sanofi, Takeda Pharmaceuticals U.S.A., Vertex Pharmaceuticals, U.S. Food and Drug Administration
Openalex Percentile: Top 8%
Genetic Neurodegenerative Diseases
DOISourceOpenAlex
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