Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic
disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based …

Purpose of Review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic
disease that affects approximately 1 in 2,500 individuals globally [Ashizawa et al.: Neurol Clin …

Objective To assess the feasibility of following a decisional flowchart to decide whether to
remove tracheotomy in long-term mechanically ventilated patients. Design and setting …

Objective Respiratory insufficiency is a major complication of Duchenne muscular dystrophy
(DMD). Its progression shows considerable interindividual variability, which has been less …

We would like to share our experience with the expanded access program (EAP) using
Nusinersen in infants and children with type 1 Spinal muscular atrophy (SMA). EAP is the use of …

Objective Amyotrophic lateral sclerosis (ALS) patients tend to develop progressive respiratory
muscle weakness, leading to ventilatory failure and ineffective cough, principal causes of …

Intrapulmonary percussive ventilation (IPV) is a ventilatory technique that delivers bursts of
high-flow respiratory gas into the lung at high rates, intended for treating acute respiratory …

Symptoms of respiratory involvement are frequently present but overlooked by patients with
Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test …

Introduction. Respiratory insufficiency is one of the main causes of death in myotonic dystrophy
type 1 (DM1). Although there is general consensus that these patients have a restrictive …

BACKGROUND: Until recently, it has been considered essential to maintain the use of a
double-limb circuit in patients with amyotrophic lateral sclerosis (ALS) to avoid rebreathing …