Dataset Information

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

ABSTRACT:

Objective

To determine the frequency and relative importance of the most life-affecting symptoms in myotonic dystrophy type 2 (DM2) and to identify the factors that have the strongest association with these symptoms.

Methods

We conducted a cross-sectional study of adult patients with DM2 from a National Registry of DM2 Patients to assess the prevalence and relative importance of 310 symptoms and 21 symptomatic themes. Participant responses were compared by age categories, sex, educational attainment, employment status, and duration of symptoms.

Results

The symptomatic themes with the highest prevalence in DM2 were the inability to do activities (94.4%), limitations with mobility or walking (89.2%), hip, thigh, or knee weakness (89.2%), fatigue (89.2%), and myotonia (82.6%). Participants identified the inability to do activities and fatigue as the symptomatic themes that have the greatest overall effect on their lives. Unemployment, a longer duration of symptoms, and less education were associated with a higher average prevalence of all symptomatic themes (p < 0.01). Unemployment, a longer duration of symptoms, sex, and increased age were associated with a higher average effect of all symptomatic themes among patients with DM2 (p < 0.01).

Conclusions

The lives of patients with DM2 are affected by a variety of symptoms. These symptoms have different levels of significance and prevalence in this population and vary across DM2 subgroups in different demographic categories.

SUBMITTER: Heatwole C

PROVIDER: S-EPMC4691689 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Publications

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

Heatwole Chad C Johnson Nicholas N Bode Rita R Dekdebrun Jeanne J Dilek Nuran N Hilbert James E JE Luebbe Elizabeth E Martens William W McDermott Michael P MP Quinn Christine C Rothrock Nan N Thornton Charles C Vickrey Barbara G BG Victorson David D Moxley Richard T RT

Neurology 20151118 24

<h4>Objective</h4>To determine the frequency and relative importance of the most life-affecting symptoms in myotonic dystrophy type 2 (DM2) and to identify the factors that have the strongest association with these symptoms.<h4>Methods</h4>We conducted a cross-sectional study of adult patients with DM2 from a National Registry of DM2 Patients to assess the prevalence and relative importance of 310 symptoms and 21 symptomatic themes. Participant responses were compared by age categories, sex, edu ...[more]

PMID: 26581301

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Project description:BackgroundAs novel therapeutic interventions are being developed and tested in the amyotrophic lateral sclerosis (ALS) population, there is a need to better understand the symptoms and issues that have the greatest impact on the lives of individuals with ALS. We aimed to determine the frequency and relative importance of symptoms experienced by adults in a national ALS sample and to identify factors that are associated with the greatest disease burden in this population.MethodsWe conducted 15 qualitative interviews of individuals with varied ALS phenotypes and analyzed 732 quotes regarding the symptomatic disease burden of ALS between August 2018 and March 2019. We subsequently conducted a national, cross-sectional study of 497 participants with ALS and ALS variants through the Centers for Disease Control and Prevention's (CDC) National ALS Registry between July 2019 and December 2019. Participants reported on the prevalence and relative importance of 189 symptomatic questions representing 17 symptomatic themes that were previously identified through qualitative interviews. Analysis was performed to determine how age, sex, education, employment, time since onset of symptoms, location of symptom onset, feeding tube status, breathing status and speech status relate to symptom and symptomatic theme prevalence.FindingsSymptomatic themes with the highest prevalence in our sample were an inability to do activities (93.8%), fatigue (92.6%), problems with hands or fingers (87.7%), limitations with mobility or walking (86.7%), and a decreased performance in social situations (85.7%). Participants identified inability to do activities and limitations with mobility or walking as having the greatest overall effect on their lives.InterpretationIndividuals with ALS experience a variety of symptoms that affect their lives. The prevalence and importance of these symptoms differ among the ALS population. The most prevalent and important symptoms offer potential targets for improvements in future therapeutic interventions.FundingResearch funding was provided by ALS Association.

Dataset Information

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

Objective

Methods

Results

Conclusions

Publications

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

Similar Datasets

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