Patients with hereditary generalized neuromuscular diseases develop respiratory failure and decreased maximal inspiratory pressure (Pi max) due to both, involvement of respiratory muscles in the disease and secondary spine- and thorax-deformity. In recent years mechanical respiratory support was done mostly by hyperbaric pressure ventilation when the patients become hypercapnic during daytime. However, polysomnographic investigations have shown that despite normal ventilation during daytime, severe respiratory failure might be detectable only during sleep. Fourty patients with hereditary generalized neuromuscular diseases were analyzed using polysomnographic analyses and lung function tests (4-channel-ECG,2-channel-ECG, EOG, respiratory parameters, continuous oxygen saturation measurement and capillary blood gas analyses during sleep). Patients with need of ventilatory support during sleep were treated using bilevel positive airway pressure ventilation (BiPAP). Twenty patients revealed severe sleep related breathing disorders and were therefore treated by BiPAP. All showed normalisation or substantial improvement during BiPAP-therapy except two patients with persistent daytime symptoms. During follow-up (6 to 38 months) 3 patients died (cardiomyopathy, pulmonary embolism, pneumonia). The most important side effect of BiPAP-therapy was pressure marks due to the masks. BiPAP is useful for treatment of sleep related respiratory failure in patients with hereditary generalized neuromuscular diseases.

Müller-Pawlowski, von Moers, Raffenberg, Petri, Saalfeld, Lode, , , (1995). [BiPAP therapy of respiratory disorders in patients with congenital neuromuscular diseases]. Medizinische Klinik (Munich, Germany : 1983), 1995 Apr;90(1 Suppl 1):35-8. https://www.ncbi.nlm.nih.gov/pubmed/7616916