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

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 Ͻ 0.01) and between CTG repeat length and the average effect of all symptomatic themes on participant lives (p Ͻ 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. Neurology Myotonic dystrophy type 1 (DM1) is a multisystem disorder caused by an unstable trinucleotide repeat expansion on chromosome 19q13.3 in the DMPK gene.1-3 The core features of DM1 are myotonia, weakness, and early-onset cataracts (Ͻ50 years of age). Along with these core features, patients commonly report symptoms related to cognition, gastrointestinal function, sleep, fatigue, mood, ability to swallow, vision, social relations, and physical function. 4 The effect of each symptom on health-related quality of life is unknown. Furthermore, given the multisystem manifestations of DM1, we hypothesize that there are additional underrecognized symptoms that are important to patients and have a critical effect on their health status.

Clinical, Psychosocial, and Central Correlates of Quality of Life in Myotonic Dystrophy Type 1 Patients

“…In a recent study, Heatwole et al [40] demonstrated that fatigue was reported by DM1 patients as the primary symptom of their condition and the one having the greatest overall effect on their lives. It is thus unsurprising that fatigue was identified as the factor explaining the most variance (about 25%) with regard to the physical health domains (PCS model) of DM1 patients.…”

Quantitative Assessment of Trunk Muscles Involvement in Patients with Myotonic Dystrophy Type 1 Using a Whole Body Muscle Magnetic Resonance Imaging

“…The age at onset was determined by questioning the patients about their age at onset. Age at onset was defined when the patient complained of at least one of the following symptoms or signs: difficulty in walking or running, fine motor problems, difficulties loosing grip, swallowing difficulties, decreased strength, stiffness, cataract, arrhythmia, or episodes of apnea [7]. In addition, the disease duration was defined by the difference between age at onset and age at the time of MRI acquisition.…”

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands

“…Daytime sleepiness and impaired sleep are common in patients with adult DM1 [9,12,[14][15][16] representing the 4th most prevalent symptomatic theme among patients with DM1 [17]. Impaired sleep disorders are clearly present in both adults and children and can be present as sleep-related breathing events, periodic limb movements or REM-sleep disturbances [9][10][11].…”