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. 2012 Jul 24;79(4):348-57.
doi: 10.1212/WNL.0b013e318260cbe6. Epub 2012 Jul 11.

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

Chad Heatwole  1 , Rita Bode, Nicholas Johnson, Christine Quinn, William Martens, Michael P McDermott, Nan Rothrock, Charles Thornton, Barbara Vickrey, David Victorson, Richard Moxley 3rd
Affiliations

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

Chad Heatwole et al. Neurology. .

Erratum in

  • Neurology. 2012 Sep 25;79(13):1411

Abstract

Objective: To determine the most critical symptoms in a national myotonic dystrophy type 1 (DM1) population and to identify the modifying factors that have the greatest effect on the severity of these symptoms.

Methods: We performed a cross-sectional study of 278 adult patients with DM1 from the national registry of patients with DM1 between April and August 2010. We assessed the prevalence and relative significance of 221 critical DM1 symptoms and 14 disease themes. These symptoms and themes were chosen for evaluation based on prior interviews with patients with DM1. Responses were categorized by age, CTG repeat length, gender, and duration of symptoms.

Results: Participants with DM1 provided symptom rating survey responses to address the relative frequency and importance of each DM1 symptom. The symptomatic themes with the highest prevalence in DM1 were problems with hands or arms (93.5%), fatigue (90.8%), myotonia (90.3%), and impaired sleep or daytime sleepiness (87.9%). Participants identified fatigue and limitations in mobility as the symptomatic themes that have the greatest effect on their lives. We found an association between age and the average prevalence of all themes (p < 0.01) and between CTG repeat length and the average effect of all symptomatic themes on participant lives (p < 0.01).

Conclusions: There are a wide range of symptoms that significantly affect the lives of patients with DM1. These symptoms, some previously underrecognized, have varying levels of importance in the DM1 population and are nonlinearly dependent on patient age and CTG repeat length.

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Figures

Figure 1
Figure 1. Flow diagram of activities and analyses involved in identifying the most critical symptoms and themes in myotonic dystrophy type 1 (DM1)
Figure 2
Figure 2. Prevalence of myotonic dystrophy type 1 themes by age
(A) First 8 themes displayed. (B) Themes 9 through 15 displayed. Association between age and the average composite prevalence over all themes: p < 0.01.
Figure 3
Figure 3. Relative impact of myotonic dystrophy type 1 themes by CTG repeat length
(A) First 8 themes displayed. (B) Themes 9 through 15 displayed. Association between an increasing number of CTG repeats and the average composite impact over all themes: p < 0.01.
See this image and copyright information in PMC

References

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