A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
Muscle Nerve
; 69(3): 362-367, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38189531
ABSTRACT
INTRODUCTION/AIMS:
In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes. This study aims to evaluate FSHD disease progression over 1 year and to examine the sensitivity of several outcome measures in detecting changes during this interval.METHODS:
We conducted a 12-month prospective observational study of 41 participants with FSHD. Participants were evaluated at baseline, 6 months, and 12 months with serial strength testing (manual muscle testing or MMT and maximum voluntary isometric contraction testing or MVICT), functional testing (FSHD-Composite Outcome Measure or FSHD-COM, FSHD Clinical Severity Score or CSS, and FSHD Evaluation Score or FES), sleep and fatigue assessments, lean body mass measurements, respiratory testing, and the FSHD-Health Index patient-reported outcome. Changes in these outcome measures were assessed over the 12-month period. Associations between changes in outcome measures and both age and sex were also examined.RESULTS:
In a 12-month period, FSHD participant function remained largely stable with a mild worsening of strength, measured by MMT and standardized MVICT scores, and a mild loss in lean body mass.DISCUSSION:
The abilities and disease burden of adults with FSHD are largely static over a 12-month period with participants demonstrating a mild average reduction in some measures of strength. Selection of patients, outcome measures, and trial duration should be carefully considered during the design and implementation of future clinical studies involving FSHD patients.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular Facioescapuloumeral
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Observational_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos