Data from: Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD)

Objective: To determine the frequency and relative importance of the most
meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and
to identify the demographic and clinical features that are associated with
the greatest disease burden in this population. Methods: We performed a
cross-sectional study involving 328 FSHD participants. Collectively,
participants reported the prevalence and relative importance of 274
symptoms and 15 symptomatic themes. We assessed the association between
symptomatic theme prevalence and participants’ age, sex, disease duration,
pain level, employment status, and education. Results: Participants
answered over 48,000 questions regarding their disease burden. The
symptomatic themes with the highest prevalence in our sample were problems
with shoulders or arms (96.9%), limitations with activities (94.7%), core
weakness (93.8%), fatigue (93.8%), limitations with mobility and walking
(93.6%), changed body image due to the disease (91.6%) and pain (87.7%).
Problems with shoulders and arms and limitations with mobility and walking
had the greatest effect on participants’ lives. Employment status and the
report of pain had the most extensive association with the prevalence of
symptoms with employment being associated with 8/15 of the symptomatic
themes and pain being associated with 7/15 of the symptomatic themes. Men
and women with FSHD experienced a similar prevalence of all symptomatic
themes. Conclusions: Adults with FSHD experience a variety of symptoms
that play an important role in their disease burden. These symptoms have a
variable prevalence and importance in the FSHD population and are
associated with disease duration, employment status, and pain level.