Chest
Clinical InvestigationsNeuromuscular DiseaseDomiciliary-Assisted Ventilation in Patients With Myotonic Dystrophy
Section snippets
Patient Selection
All patients with myotonic dystrophy who were referred to the Respiratory Support and Sleep Center, Papworth Hospital, were identified and their case records were reviewed retrospectively. From 1989 to 1997, 16 patients were referred. Of the original 16 patients, 3 patients did not receive assisted ventilation and 3 patients died. The remaining 10 patients were admitted for reassessment between October 1997 and April 1998.
Initial Assessment
Clinical history was obtained from all patients, including presenting
Patient Characteristics
Of the 16 patients initially referred for assessment, 3 patients were found to have satisfactory physiologic results at initial assessment (Paco2 < 49 mm Hg and Pao2 > 60 mm Hg) and did not required assisted ventilation after a mean follow-up period of 2.5 years (range, 1.5 to 3.0 years). Of the 13 patients who commenced ventilatory support, there were 6 men and 7 women with mean age 47.9 years (range, 36 to 69 years). All were referred with a previously established diagnosis of myotonic
Discussion
Chronic hypercapnia is a common finding in patients with myotonic dystrophy and can occur with minimal signs of peripheral muscle weakness.14 There are few reports of long-term use of noninvasive ventilatory support in this condition. In a previous study,15 all patients with myotonic dystrophy required tracheostomy for long-term ventilation. Factors that may contribute to difficulties in establishing patients with myotonic dystrophy on noninvasive treatment include an irregular respiratory
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Cited by (64)
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study
2019, Journal of the Neurological SciencesRespiratory dysfunction in myotonic dystrophy type 1: A systematic review
2019, Neuromuscular DisordersGenotype and other determinants of respiratory function in myotonic dystrophy type 1
2018, Neuromuscular DisordersCitation Excerpt :Death occurs at a median age of 54 years, usually due to cardiorespiratory complications [7–10]. The introduction of non-invasive ventilation (NIV) to manage the chronic respiratory failure, combined with improved treatments for the cardiac manifestations, has improved survival in patients with DM1 [11,12]. Clarifying the natural history of lung function and its relationship with genotype in DM1 would probably further improve follow-up and prevention strategies while also optimising conventional treatments such as NIV.
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort
2016, Neuromuscular DisordersCitation Excerpt :The main cause of death is cardiopulmonary failure at a median age of 54 years [4,6–8]. Non-invasive ventilation (NIV) can improve the symptoms of chronic respiratory failure (such as daytime sleepiness, fatigue, and headache) and help normalize blood gases [9]. The effectiveness of NIV is highly dependent on compliance.
Feasibility of lung volume recruitment in early neuromuscular weakness: A comparison between amyotrophic lateral sclerosis, myotonic dystrophy, and postpolio syndrome
2015, PM and RCitation Excerpt :However, earlier, preventive intervention may provide an advantage. Furthermore, potential benefits of LVR may depend upon unique characteristics of the specific NMD in question [8,14-16]. In the present investigation, we performed a feasibility study of LVR use in patients with NMDs who had relatively early pulmonary restrictive defects.
Sleep and breathing
2014, Clinics in Chest Medicine
Dr. Nugent was supported by funding from the Northern Ireland Postgraduate Council for Medical and Dental Education and the Doctor Samuel Ireland Turkington Research Scholarship, The Queen's University of Belfast, Northern Ireland.