Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management.

Purpose: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population.

Evaluation of ventilators for mouthpiece ventilation in neuromuscular disease.

Background: Daytime mouthpiece ventilation is a useful adjunct to nocturnal noninvasive ventilation (NIV) in patients with neuromuscular disease. The aims of the study were to analyze the practice of mouthpiece ventilation and to evaluate the performance of ventilators for mouthpiece ventilation.

Methods: Practice of mouthpiece ventilation was assessed by a questionnaire, and the performance of 6 home ventilators with mouthpiece ventilation was assessed in a bench test using 24 different conditions per ventilator: 3 mouthpieces, a child and an adult patient profile, and 4 ventilatory modes.

Intrapulmonary effects of setting parameters in portable intrapulmonary percussive ventilation devices.

Background: Despite potential benefits of intrapulmonary percussive ventilation (IPV) in various respiratory diseases, the impact of setting parameters on the mechanical effects produced by IPV in the lungs is unknown. We hypothesized that changing the parameters on IPV would modulate these effects. This in vitro study aimed at comparing the changes in intrapulmonary effects resulting from changes in parameters in 3 portable IPV devices (IMP2, Impulsator, and Pegaso).

A comparison of invasive versus noninvasive full-time mechanical ventilation in Duchenne muscular dystrophy.

The aim of this study was to compare morbidity and causes of death in a series of 42 Duchenne patients receiving full-time mechanical ventilation either by tracheostomy (TR, n = 16 or by noninvasive methods (noninvasive ventilation [NIV], n = 26). At inclusion for a 5-year observation period (2002-2006), TR and NIV patients were 32.7 and 27 years old, respectively.

Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience.

Chronic respiratory insufficiency is inevitable in the course of disease progression in patients with Duchenne muscular dystrophy (DMD). Without mechanical ventilation (MV), morbidity and mortality are highly likely towards the end of the second decade of life. The present review reports evidence and clinical implications regarding DMD patients treated with MV.

Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy.

Background: In patients with Duchenne muscular dystrophy (DMD), implementation of mechanical ventilation depends on sleep investigation and measurement of CO2 tension. The objective of this cross-sectional study was to determine which noninvasive lung function parameter best predicts nocturnal hypercapnia and diurnal hypercapnia in these patients.

Methods: According to transcutaneous CO2 (TcCO2) measurement, 114 DMD patients were classified into three groups: nocturnal hypercapnia (n = 38) [group N], diurnal hypercapnia (n = 39), despite nocturnal ventilation (group D), and 24-h normocapnia and spontaneous breathing (n = 37) [group S] as control.

Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients.

The present study aimed to assess the impact of diurnal mouthpiece intermittent positive pressure ventilation (MIPPV) as the extension of the nasal intermittent positive pressure ventilation (NIPPV) in Duchenne muscular dystrophy (DMD). In total, 42 DMD patients aged 15-33 yrs, normocapnic at night with NIPPV and receiving MIPPV since end-diurnal hypercapnia, were studied. Transcutaneous CO2 tension (Pt,CO2) was prospectively monitored at the end of the day, before and after MIPPV initiation.