Genotype and other determinants of respiratory function in myotonic dystrophy type 1

Boussaïd, Ghilas; Wahbi, Karim; Laforêt, Pascal; Eymard, B.; Stojkovic, Tanya; Béhin, Anthony; Annane, Djillali; David, Olivier; Prigent, Hélène; Lofaso, Frédéric

doi:10.1016/j.nmd.2017.12.011

Cited by 17 publications

(22 citation statements)

References 35 publications

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“…Falls are prevalent in DM1 patients, and knowledge of whether myopathy in trunk muscles are related to mobility or balance, is of clinical importance [9]. Respiratory function may also be impaired [3, 10], and represents the main cause of mortality in the group [11]. The abdominal muscles are important for respiratory function [12] and involvement of trunk muscles may therefore indicate a need for ventilatory support [7].…”

Section: Introductionmentioning

confidence: 99%

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

et al. 2019

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Background Myotonic Dystrophy 1 (DM1) causes progressive myopathy of extremity muscles. DM1 may also affect muscles of the trunk. The aim of this study was to investigate fat infiltration and muscle size in trunk muscles in DM1 patients, and in an age and gender matched control group. Further, explore how fat infiltration and degree of atrophy in these muscles are associated with motor and respiratory function in DM1 patients. Method We measured fat infiltration and trunk muscle size by MRI in 20 patients with genetically confirmed classic form of DM1, and compared these cases with 20 healthy, age and gender matched controls. In the DM1 group, we investigated correlations between MRI findings and clinical measures of muscle strength, mobility and respiration. We used sum scores for fat infiltration and muscle size in trunk flexors and trunk extensors in the analysis of group differences and correlations. Results Significant differences between cases and controls were present for fat infiltration in trunk flexors ( p = 0.001) and trunk extensors (p = < 0.001), and for muscle size in trunk flexors ( p = 0.002) and trunk extensors ( p = 0.030). Fat infiltration in trunk flexors were significant correlated to back extension strength ( rho = − 0.523 p = 0.018), while muscle size in trunk flexors was significantly correlated to trunk flexion strength (rho = 0.506 p = 0.023 ). Fat infiltration in trunk flexors was significantly correlated with lower general mobility ( rho = − 0.628, p = 0.003), reduced balance ( rho = 0.630, p < 0.003) and forced vital capacity ( rho − 0.487 p = 0.040). Conclusions Trunk muscles in DM1 patients had significant higher levels of fat infiltration and reduced muscle size compared to age and gender matched controls. In DM1 patients, fat infiltration was associated with reduced muscle strength, mobility, balance and lung function, while muscle size was associated with reduced muscle strength and lung function. These findings are of importance for clinical management of the disease and could be useful additional outcome measures in future intervention studies. Electronic supplementary material The online version of this article (10.1186/s12883-019-1357-8) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

et al. 2019

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“…Twenty-three studies assessed respiratory muscle strength. Eighteen used manometry [88][89][90][91][92][93][94][95][96][97][98][99][100]102,103,[108][109][110] (supplementary table 1).…”

Section: Respiratory Muscle Strengthmentioning

confidence: 99%

“…Fifteen studies of maximal expiratory pressure [88][89][90][91][92][93][96][97][98][99][100]102,103,108,110] 2D).…”

Section: Maximal Inspiratory and Expiratory Pressuresmentioning

confidence: 99%

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Outcome measures frequently used to assess muscle strength in patients with myotonic dystrophy type 1: a systematic review

Mateus

Costa

Viegas

et al. 2022

Neuromuscular Disorders

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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“…As other disease manifestation, there is a direct correlation between CTG length and cardiorespiratory involvement: longer CTG expansion is associated with arrhythmias as well as PR and QRS prolongation, with lower values for maximal inspiratory pressure and vital capacity, the genetic test is helpful in risk stratification (35,36). From the time of DM1 diagnosis, a lifelong cardiac surveillance for arrhythmias and cardiomyopathy, and eventually a prophylactic treatment is a major goal in treating DM1 (37).…”

Section: Multisystem Involvementmentioning

confidence: 99%

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

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Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.

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Genotype and other determinants of respiratory function in myotonic dystrophy type 1

Cited by 17 publications

References 35 publications

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1

Outcome measures frequently used to assess muscle strength in patients with myotonic dystrophy type 1: a systematic review

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

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