Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

University of Rochester, Rochester, NY, USA.
Neurology (Impact Factor: 8.29). 07/2012; 79(4):348-57. DOI: 10.1212/WNL.0b013e318260cbe6
Source: PubMed


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.
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.
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).
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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    • "Consequently, patients may experience significant disruption and decreased satisfaction with employment and social recreation (Gagnon et al., 2007); in turn, impaired mental and physical function and reduced quality of life may result (Laberge et al., 2013). Despite evidence that clinicians and patients may have different concerns and goals, much of the current myotonic dystrophy literature is written from a biomedical perspective, and relatively few qualitative studies explore the perspectives of patients with muscular dystrophy (LaDonna, Koopman, Ray, & Venance, in press; Boström & Ahlström, 2005; Boström & Ahlström, 2004; Boström, Ahlströ m, & Sunvisson, 2006; Cup et al., 2011; Faulkner & Kingston, 1998; Heatwole et al., 2012; Nätterlund et al., 2001). These studies use a range of methods including content analysis and phenomenology to explore questions pertaining to living with muscular dystrophy; few of these studies represent the perspectives of North American patients, and individuals with myotonic dystrophy are a small proportion of the overall sample. "
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    • "Pathogenesis is caused primarily by the mRNA containing expanded CUG repeats (CUG exp RNA) that is expressed from the mutated allele (Wheeler and Thornton, 2007). DMPK is expressed in multiple tissues that are subsequently affected in the disease, but the primary causes of mortality are muscle wasting (60%) and sudden cardiac death (25%–30%) (Groh et al., 2008; Heatwole et al., 2012; Phillips and Harper, 1997; Salehi et al., 2007). More than 80% of individuals affected with DM1 have cardiac conduction defects and arrhythmias, and a lower percentage are affected by interstitial fibrosis and dilated cardiomyopathy (Groh et al., 2008; Lazarus et al., 2002; Nazarian et al., 2010; Pelargonio et al., 2002; Phillips and Harper, 1997; Sovari et al., 2007). "
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