ArticleSleep & breathing = Schlaf & Atmung2013
Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy.
Article in Sleep & breathing = Schlaf & Atmung, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- A systematic review of the frequency of sleep evaluations, sleep disorders, and treatments among individuals with muscular dystrophy.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2026Pooled it
- Noninvasive Home Mechanical Ventilation in Adult Myotonic Dystrophy Type 1: A Systematic Review.Respiration; international review of thoracic diseasesPooled it
- Predictors of respiratory failure and survival in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Article
- Evaluation of Sleep-Disordered Breathing and Respiratory Dysfunction in Children with Myotonic Dystrophy Type 1-A Retrospective Cross-Sectional Study.Biomedicines · 2025Article
- The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy.Journal of neuromuscular diseases · 2024Article
- Myotonic dystrophy type 1 presenting with dyspnea: A case report.World journal of clinical cases · 2022Article
- Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center.Canadian respiratory journal · 2022Article
- The role of noninvasive ventilation in the management of type II respiratory failure in patients with myotonic dystrophy.ERJ open research · 2021Article
- Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.Acta neurologica Belgica · 2021Article
- Factors Influencing the Severity and Progression of Respiratory Muscle Dysfunction in Myotonic Dystrophy Type 1.Frontiers in neurology · 2021Article
- 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
- Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy.BMC research notes · 2020Article
- Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.Frontiers in neurology · 2020Review
- Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome.Frontiers in neurology · 2019Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDystrophia myotonica (DM) is the most frequent adult-onset muscular dystrophy. Type 1 is caused by the cytosine-thymine-guanine (CTG) repeat expansion in the DM protein kinase gene. Respiratory muscle weakness and altered central ventilatory control lead to hypercapnia and lung volume restriction. PURPOSE: This study aims to review the respiratory involvement in DM patients and study its relation with genetics.
methodsRetrospective study of patients with DM referred for respiratory assessment was made. Noninvasive ventilation (NIV) was considered to daytime hypercapnia or symptoms of nocturnal hypoventilation.
resultsForty-two consecutive patients (37.9 ± 13.6 years) were evaluated. Mean CTG length was 642.8 ± 439.2 repeats. In the first evaluation, mean forced vital capacity (FVC) was 74.4 ± 20.2 %, maximal expiratory pressure (MEP) 35 ± 16 %, maximal inspiratory pressure 52 ± 23 %, peak cough flow (PCF) 327.3 ± 97.7 L/min, arterial pressure of oxygen 79.7 ± 11.3 mmHg, arterial pressure of carbon dioxide 45.5 ± 6.2 mmHg, overnight minimal peripheral oxygen saturation (SpO2) 79.6 ± 11.6 %, and apnea-hypopnea index 13.9 ± 9.9. CTG length was found to be related with MEP (r = -0.67; p = 0.001) and SpO2 (r = -0.37; p = 0.039). NIV was started in 25 patients. Ventilated patients had lower FVC (2.19 to 3.21 L; p < 0.001) and PCF (285.3 to 388.5 L/min; p = 0.003) and more CTG repeats (826.6 to 388.5 repeats; p = 0.02). NIV compliance was poor in seven patients (28 %) and related with hypercapnia (r = 0.87; p = 0.002) and inspiratory positive airway pressure setting (r = 0.65; p = 0.009). Ventilation improved symptoms and nocturnal hypoventilation. Comparing the first and last evaluations, only PCF was significantly lower (275.0 to 310.8 L/min; p = 0.019).
conclusionsVentilatory insufficiency is very common in patients with DM and CTG length may be useful to predict it. Prolonged NIV improves symptoms, nocturnal hypoventilation and maintains daily blood gases. Routine evaluation of PCF should not be forgotten and assisted coughing training provided.
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