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

Autor: Zhang Y; Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC, USA., Wallace B; Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.; Oak Ridge Institute for Science and Education, Atlanta, GA, USA., Cai B; Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC, USA., Johnson N; Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA., Ciafaloni E; Department of Neurology, University of Rochester, Rochester, NY, USA., Venkatesh YS; Department of Neurology, School of Medicine Columbia, University of South Carolina, Columbia, SC, USA., Westfield C; South Carilina Department of Public Health, Columbia, SC, USA., McDermott S; Department 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.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 409. Date of Electronic Publication: 2024 Nov 01.
DOI: 10.1186/s13023-024-03359-8
Abstrakt: Background: Myotonic 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.
Results: Clinical 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.
Conclusions: This study identified three latent factors of S/S which accumulated during the clinical course of adult onset DM1.
(© 2024. The Author(s).)
Databáze: MEDLINE
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