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. 2019 Sep 17;93(12):e1180-e1192.
doi: 10.1212/WNL.0000000000008123. Epub 2019 Aug 13.

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

Johanna Hamel  1 , Nicholas Johnson  2 , Rabi Tawil  2 , William B Martens  2 , Nuran Dilek  2 , Michael P McDermott  2 , Chad Heatwole  2
Affiliations

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

Johanna Hamel et al. Neurology. .

Abstract

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 participants with FSHD. 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 >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 of 15 of the symptomatic themes and pain being associated with 7 of 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.

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Figures

Figure 1
Figure 1. Symptomatic themes by employment status
(A) Prevalence of symptomatic themes by employment status. *Significant p values ≤0.05 from the Fisher exact test after the Benjamini-Hochberg procedure was applied. (B) Impact of symptomatic themes by employment status. The possible range of impact on lives is 0.0 to 4.0, with higher values representing greater impact on patient's lives. *Significant p value ≤0.05 from the Kruskal-Wallis test after the Benjamini-Hochberg procedure was applied.
Figure 2
Figure 2. Symptomatic themes by pain level
(A) Prevalence of symptomatic themes by pain level. *Significant p values ≤0.05 from the Fisher exact test after the Benjamini-Hochberg procedure was applied. (B) Impact of symptomatic themes by pain level. The possible range of impact on lives is 0.0 to 4.0, with higher values representing greater impact on patient's lives. *Significant p value ≤0.05 from the Kruskal-Wallis test after the Benjamini-Hochberg procedure was applied.
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