Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Rossi, Salvatore; Marca, Giacomo Della; Ricci, Martina; Perna, Alessia; Nicoletti, Tommaso; Brunetti, Valerio; Meleo, Emiliana; Calvello, Mariarosaria; Petrucci, Antonio; Antonini, Giovanni; Bucci, Elisabetta; Licchelli, Loretta; Sancricca, Cristina; Massa, Roberto; Rastelli, Emanuele; Botta, Annalisa; Muzio, Antonio Di; Romano, Sónia; Garibaldi, Matteo; Silvestri, Gabriella

doi:10.1016/j.jns.2019.02.012

Cited by 32 publications

(38 citation statements)

References 34 publications

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“…When considering other personal and environmental factors, CTG repeats expansion size only predicted participation in nutrition. Even if CTG repeats expansion size constitutes a marker of disease severity related to impairments, including muscular weakness [70,71], fatigue [53] or restrictive respiratory syndrome [72], and socially deprived situation [18], it is not completely surprising that it weakly predicts participation. CTG repeats expansion size are not always clinically significant, nor predictive of disease severity from an individual standpoint [73].…”

Section: Ctg Repeats Expansion Size and Participationmentioning

confidence: 99%

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

Raymond

Levasseur

Gallais

et al. 2020

Disability and Rehabilitation

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Section: Ctg Repeats Expansion Size and Participationmentioning

confidence: 99%

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

Raymond

Levasseur

Gallais

et al. 2020

Disability and Rehabilitation

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“…Early detection of respiratory dysfunction in addition to early diagnosis of DM1 is crucial. Therapeutic management employing non-invasive therapeutic tools such as NPPV may increase the life expectancies of DM1 patients (3, 4).…”

Section: Discussionmentioning

confidence: 99%

“…Based on chronic alveolar hypoventilation (patients with decreased percent predicted VC are at high risk), diurnal hypercapnia (PaCO 2 ≥ 45 mmHg) according to the ABG, evidence of nocturnal hypoventilation on nocturnal pulse-oximetry, defined as SpO 2 < 92% more than 4 times during the entire sleep time or >4% of the entire sleep time as well as AHI≥10 events/h, these two siblings were started on NPPV. The NPPV consisted of 6 cmH 2 O of inspiratory positive airway pressure, 4 cmH 2 O of expiratory positive airway pressure and a 12 bpm back-up rate in spontaneous/timed mode during sleep (4, 5, 16–18). These two siblings have been followed at outpatient care by the same pulmonologist and there has been no apparent worsening of symptoms since starting NPPV therapy.…”

Section: Case Reportmentioning

confidence: 99%

Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome

et al. 2019

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory impairment is associated with increased morbidity in DM1. The main ventilatory dysfunction etiology in DM1 is complex, consisting of both peripheral respiratory dysfunction and central respiratory drive dysfunction as well as upper airway muscle dysfunction leading to obstructive sleep apnea syndrome (SAS) and aspiration. Advancements in early diagnosis of DM1 and management with non-invasive therapeutic tools have improved life expectancy for DM1 patients. We present herein two siblings with DM1, a thin elder brother and an obese younger sister with visceral fat accumulation. Although neither had voluntary symptoms related to respiratory dysfunction, their apnea-hypopnea indices revealed severe SAS and subsequent arterial blood gases studies showed hypercapnia as well as hypoxia, suggesting central nervous system involvement with peripheral respiratory dysfunction. Non-invasive positive pressure ventilation during sleep was started following pulmonary assessment. Respiratory function should be assessed in DM1 patients, even those free of respiratory symptoms, because respiratory muscle weakness occurs in a high percentage of these patients and will shorten their lives.

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“…Clinicians must monitor issues such as recurrent pneumonia at baseline and serially, with pulmonary function tests. Being a relatively slow progressive disorder, respiratory involvement frequently presents itself with symptoms such as fatigue, excessive daytime sleepiness, sleep disorders (obstructive or CNS mediated sleep apnea); thereafter, clinical manifestations progress to an ineffective cough, respiratory insufficiency (restrictive ventilatory pattern), and recurrent pulmonary infections (26,29). Many mechanisms are involved to explain respiratory insufficiency in DM1 besides respiratory muscle weakness and chest mechanics, and among those alterations are neural respiratory drive and abnormal central respiratory control (central hypoventilation) (30).…”

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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Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Cited by 32 publications

References 34 publications

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1

Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome

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

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