ArticleNeurology2026
Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.
Article in Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
8 authors.
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Abstract
BACKGROUND AND
objectivesAdult-onset myotonic dystrophy type 1 (DM1) is a progressive, multisystemic disorder, characterized by distal muscle weakness and myotonia. As disease-modifying therapies emerge, robust and sensitive outcome measures are urgently needed. This study characterized the natural history of adult-onset DM1 over 2 years and evaluated quantitative MRI (qMRI) and clinical outcome measures for clinical trials.
methodsThis prospective, monocentric study assessed patients with genetically confirmed adult-onset DM1 and age-matched and sex-matched healthy controls at baseline and 12, 18, and 24 months. qMRI measured proton density fat fraction (PDFF, %) and T2
resultsThirty patients (median 38 years, 60% female, Muscular Impairment Rating Scale 3-4) and 30 matched controls were included. Baseline PDFF (%) was significantly higher in patients with distal (31.8% vs 5.9%, DISCUSSION: PDFF (%) is a sensitive, objective outcome measure for adult-onset DM1, detecting change within 6-month intervals. MFM32, MRC sum score, DM1-ActivC, and INQoL demonstrate meaningful deterioration over 12-24 months, supporting their combined use with qMRI as outcomes in future trials for adult-onset DM1.
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