ArticleJournal of neurology2015
Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes.Neurology · 2026Article
- Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases.NEJM AI · 2025Article
- Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025Review
- Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus.Frontiers in neurology · 2025Review
- An Autopsy Case of Myotonic Dystrophy Type 1 With Pancreatic Intraductal Papillary Mucinous Neoplasm.Cureus · 2024Article
- Article
- Small and large fiber neuropathy in adults with myotonic dystrophy type 1.Frontiers in neurology · 2024Article
- Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients.Journal of neurology · 2022Article
- Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.Biology open · 2022Article
- Transcriptome changes in DM1 patients' tissues are governed by the RNA interference pathway.Frontiers in molecular biosciences · 2022Article
- Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Grip myotonia.BMJ case reports · 2021Article
- Pain in adult myotonic dystrophy type 1: relation to function and gender.BMC neurology · 2021Article
- Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.Acta neurologica Belgica · 2021Article
- Change over time in ability to perform activities of daily living in myotonic dystrophy type 1.Journal of neurology · 2020Observational
- Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Observational
- Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting.Human molecular genetics · 2020Article
- Functional Ambulation Profile (FAP) Score as a Potential Marker of Gait Analysis in Myotonic Dystrophy Type 1.Frontiers in neurology · 2020Article
- Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1.Muscle & nerve · 2019Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy in adult. The aim of this study was to investigate the natural history of skeletal muscle weakness in adults, in a cross-sectional, retrospective study. In a cohort of 204 adult DM1 patients, we quantified muscle impairment, handgrip force and physical disability. Muscle strength was similarly affected in the legs and in the arms, the right and left side, and distally more than proximally in patients. The earliest and the most affected skeletal muscles were the digit flexors, foot dorsiflexors and neck flexors; whereas the elbow and knee extensors and flexors were the least affected muscle groups. The rate of decline of the muscle strength was -0.111 units/year. The handgrip values were lower in DM1 patients than the normative values and the rate of decline in handgrip force per year was -0.24 kg. Limitation in mobility or walking is observed in 84 % of DM1 patients but requirement of wheelchair is infrequent (3 %). The decrease in muscle strength, handgrip force and the increase in physical disability were highly correlated with duration of the disease and the number of CTG repeats in the blood. Significant association was found between decline in muscle strength and the age at onset, physical disability and the age of patients at evaluation, handgrip force and gender. Decline in muscle weakness is very slow and although limitation when walking is a common manifestation of DM1 in patients, the requirement of wheelchair is infrequent.
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