A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).

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 S

SUBMITTER: Varma A 

PROVIDER: S-EPMC10922518 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature