Paediatrics Publications
Patient-reported study of the impact of pediatric-onset myotonic dystrophy.
Document Type
Article
Publication Date
10-2019
Journal
Muscle & Nerve
Volume
60
Issue
4
First Page
392
Last Page
399
URL with Digital Object Identifier
https://doi.org/10.1002/mus.26632
Abstract
INTRODUCTION:
The prevalence and impact of symptoms affecting individuals with pediatric forms of myotonic dystrophy type-1 (DM1) are not well understood.
METHODS:
Patients from the United States, Canada, and Sweden completed a survey that investigated 20 themes associated with pediatric-onset DM1. Participants reported the prevalence and importance of each theme affecting their lives. Surveys from participants were matched with surveys from their caregivers for additional analysis.
RESULTS:
The most prevalent symptomatic themes included problems with hands or fingers (79%) and gastrointestinal issues (75%). Problems with urinary/bowel control and gastrointestinal issues were reported to have the greatest impact on patients' lives. Responses from participants and their caregivers had varying levels of agreement among symptomatic themes.
DISCUSSION:
Many symptoms have meaningful impact on disease burden. The highest levels of agreement between caregivers and individuals with pediatric forms of myotonic dystrophy were found for physical activity themes.
