Journal article
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1
Muscle & nerve, Vol.74(1), pp.187-197
07/2026
DOI: 10.1002/mus.70277
PMID: 42115131
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.
Details
- Title: Subtitle
- Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1
- Creators
- Valeria A. Sansone - Centro Clinico NemoAndrea Lizio - Centro Clinico NemoCarola R. Ferrari Aggradi - University of MilanLucia C. Greco - Centro Clinico NemoCynthia Gagnon - Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanSub Subramony - University of FloridaRichard H. Roxburgh - University of AucklandKarlien Mul - Radboud University NijmegenJohanna Hamel - University of Rochester Medical CenterKate Eichinger - University of Rochester Medical CenterMan Hung - Roseman University of Health SciencesJeffrey M. Statland - University of Kansas Medical CenterChris Turner - University College LondonBakri Elsheikh - The Ohio State University Wexner Medical CenterBenedikt Schoser - Ludwig-Maximilians-Universität MünchenThomas Ragole - University of Colorado Anschutz Medical CampusEmma Matthews - St George’s University Hospitals NHS Foundation TrustJacinda Sampson - Stanford UniversityMasanori P. Takahashi - The University of OsakaMatthew Wicklund - The University of Texas at San Antonio Health Science CenterAndrea Swenson - University of IowaChamindra G. Laverty - University of California San DiegoPerry Shieh - University of California, Los AngelesEricka P. Greene - Houston MethodistMaria Beretta - Centro Clinico NemoJacopo L. Casiraghi - Centro Clinico NemoJeanne Dekdebrun - University of Rochester Medical CenterJennifer Raymond - Virginia Commonwealth UniversityRuby Langeslay - Virginia Commonwealth UniversityErin DeSpain - Virginia Commonwealth UniversityCharles A. Thornton - University of Rochester Medical CenterChad Heatwole - University of Rochester Medical CenterNicholas E. Johnson - Virginia Commonwealth UniversityMyotonic Dystrophy Clinical Research Network
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.74(1), pp.187-197
- DOI
- 10.1002/mus.70277
- PMID
- 42115131
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Publisher
- Wiley
- Grant note
- Vertex Pharmaceuticals PepGen Dyne Therapeutics Pfizer Wyck Foundation U.S. Food and Drug Administration Takeda Pharmaceuticals USA Myotonic Dystrophy Foundation Sanofi Avidity-Novartis
This work was supported by Avidity-Novartis; Dyne Therapeutics; Vertex Pharmaceuticals; Takeda Pharmaceuticals USA; PepGen; Sanofi; Pfizer; U.S. Food and Drug Administration; Myotonic Dystrophy Foundation; and Wyck Foundation.
- Language
- English
- Electronic publication date
- 05/11/2026
- Date published
- 07/2026
- Academic Unit
- Neurology
- Record Identifier
- 9985164081002771
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