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The Facioscapulohumeral Muscular Dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS): Longitudinal Assessment
Sjan Teeselink1, Sanne C C Vincenten1, Nicol C Voermans1
1Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
European Journal of Neurology
|August 9, 2025
Summary
Facioscapulohumeral muscular dystrophy (FSHD) typically progresses slowly. The FSHD Rasch-Built Overall Disability Scale (FSHD-RODS) detects significant decline only in moderately to severely affected patients, suggesting limitations in capturing early disease changes.
Area of Science:
- Neurology
- Clinical Research
- Patient-Reported Outcomes
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder.
- Assessing long-term disease progression and the utility of patient-reported outcome measures (PROMs) is crucial for clinical trial design and patient management.
Purpose of the Study:
- To evaluate changes in the facioscapulohumeral muscular dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS) over 6.5 years in adult FSHD patients.
- To determine the clinical importance of observed changes using minimal clinically important differences (MCID-SE).
Main Methods:
- A longitudinal study followed 62 adult FSHD patients for 6.5 years, with assessments at baseline, 5 years, and 6.5 years.
- Evaluated FSHD-RODS, Sickness Impact Profile 68 (SIP68), FSHD clinical severity score, FSHD clinical score, and Motor Function Measure (MFM).
- Calculated MCID-SE for FSHD-RODS and performed subgroup analysis on patients eligible for clinical trials.
Main Results:
- FSHD-RODS and SIP68 remained stable, while overall disease severity slightly increased and MFM slightly decreased over 6.5 years.
- FSHD-RODS showed strong correlations with SIP68, MFM, and disease severity.
- Only 16% of patients (those with moderate-to-severe baseline disease) experienced clinically important deterioration in FSHD-RODS.
Conclusions:
- FSHD progression is generally slow, and FSHD-RODS may be insensitive to subtle changes in mildly affected individuals.
- Compensatory mechanisms in FSHD might limit the sensitivity of PROMs like FSHD-RODS in detecting early functional decline.
- Alternative outcome measures are needed to effectively capture disease progression and treatment effects in FSHD clinical trials.
