Home ventilation in neuromuscular diseases

Many patients with different neuromuscular diseases, such as Duchenne and B ecker muscular dystrophy (DMD, BMD), spinal muscular atrophy (SMA) and amyo trophic lateral sclerosis (ALS) are developing weakness of the respiratory muscles with consecutive hypoventilation. They develop hypercapnia and late r in the course of the disease hypoxemia. The symptoms of hypoventilation i n neuromuscular disease are often nonspecific, but there are 5 main-symptom s of hypoventilation: paradox movement of the diaphragm, reduced intensity of coughing, dyspnoe while speaking, sleep disturbance with panic attacks a nd episodes of dyspnoe during the night, daytime sleepyness. Recognition of more than two of these symptoms should lead to blood gas analysis, lung fu nction studies, and night-time sleep studies with monitoring of pCO(2) and pO(2). Treatment of hypoventilation in patients with neuromuscular diseases with noninvasive positive pressure ventilation via a nasal or facial mask is effective in most cases with regard to life quality and symptom relieve. We review the literature and report results from 21 home ventilated patien ts.