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Patient‐reported study of the impact of pediatric‐onset myotonic dystrophy
Author(s) -
Hunter Michael,
Ekstrom AnneBerit,
Campbell Craig,
Hung Man,
Bounsanga Jerry,
Bates Kameron,
Adams Heather R.,
Luebbe Elizabeth,
Moxley Richard T.,
Heatwole Chad,
Johnson Nicholas E.
Publication year - 2019
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26632
Subject(s) - myotonic dystrophy , medicine , pediatrics , disease , physical therapy , myotonia , muscular dystrophy , gerontology
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.