Evidence map›Paper›PMID 39487453›Full record

ArticleOrphanet journal of rare diseases2024

Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.

Yanan Zhang, Bailey Wallace, Bo Cai, Nicholas Johnson, Emma Ciafaloni, Yedatore Swamy Venkatesh, Christina Westfield, Suzanne McDermott

Abstract read
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In one paragraph

Article in Orphanet journal of rare diseases, 2024. 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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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

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No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yanan ZhangDepartment of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC, USA.
Bailey WallaceDivision of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Bo CaiDepartment of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC, USA.
Nicholas JohnsonDepartment of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
Emma CiafaloniDepartment of Neurology, University of Rochester, Rochester, NY, USA.
Yedatore Swamy VenkateshDepartment of Neurology, School of Medicine Columbia, University of South Carolina, Columbia, SC, USA.
Christina WestfieldSouth Carilina Department of Public Health, Columbia, SC, USA.
Suzanne McDermottDepartment of Environmental, Occupational, Geospatial Health Sciences, Graduate School of Public Health and Health Policy, City University of New York, New York, NY, USA. Suzanne.McDermott@sph.cuny.edu.ORCID 0000-0003-1517-5033

Funding

Centers for Disease Control and Prevention Foundation DD001126, DD001119, DD001123, DD001116, DD001117, DD001108, DD001120, DD001054, DD001244, DD001242, DD001250, 5U01DD001245NCBDD CDC HHS U01 DD001054NCBDD CDC HHS U01 DD001108NCBDD CDC HHS U01 DD001116NCBDD CDC HHS U01 DD001117NCBDD CDC HHS U01 DD001119NCBDD CDC HHS U01 DD001120NCBDD CDC HHS U01 DD001123NCBDD CDC HHS U01 DD001126NCBDD CDC HHS U01 DD001242NCBDD CDC HHS U01 DD001244NCBDD CDC HHS U01 DD001245NCBDD CDC HHS U01 DD001250
6 · The paper itself

Abstract

backgroundMyotonic dystrophy type 1 (DM1) is a multisystem genetic disorder that classically presents with symptoms associated with myotonia, early onset cataracts, and muscular weakness, although the presentation and pattern of disease progression is quite varied. Presenting symptoms are well documented among adults with DM1. However, less is known about the co-occurrence of symptoms over time. We aimed to use factor analysis to explore the correlation pattern of signs and symptoms (S/S) that emerged during the clinical course.

resultsClinical records of 228 individuals with adult onset DM1 were abstracted using the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) from a six-site cohort in the United States during an eight-year study period. Factor analysis was used to group the correlated S/S into latent factors. Three factors were identified. Group 1: 'Facial Weakness/Myotonia' includes the two most common S/S, as indicated by its name. Group 2: 'Skeletal Muscle Weakness' includes eight muscular S/S and is more frequently reported by males and those with older age at onset. Group 3: 'Gastrointestinal distress/Sleepiness' includes four non-muscular S/S and hand stiffness. The abstracted medical records reported that over 63% of individuals had S/S from all three groups. Associations of covariates with factor scores were also examined using linear regression. CTG repeat length was significantly positively associated with higher factor scores for all three factors.

conclusionsThis study identified three latent factors of S/S which accumulated during the clinical course of adult onset DM1.

Indexed as

Myotonic DystrophyAdultAgedAge of OnsetDisease ProgressionFemaleHumansMaleMiddle AgedMuscle WeaknessYoung AdultCorrelationFactor analysisMyotonic dystrophyNeuromuscular diseasesPublic health surveillanceSigns and symptoms

Identifiers

PMID39487453
PMCPMC11529289

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.