Anaesthesia and Rare Neuromuscular Diseases

Fortunately, early diagnosis, the discovery of new therapies, and the use of a multidisciplinary approach have led to an extension of the life expectancy of patients suffering from rare neuromuscular diseases (NMD). In this group of diseases, both prejudicial and post-judicial pathologies are included [1, 2]. The presence of a neuromuscular pathology is a challenge for the anaesthesiologists and intensivists who have to manage anaesthesia and a perioperative care course in a patient suffering from such characteristic comorbidities. The main focus in the management of the perioperative care of a patient suffering from NMD is the risk of postoperative respiratory failure [3]. These patients could be affected by weakness of the respiratory muscles associated or not with a restrictive respiratory failure due to anatomical alteration of the rib cage. They could also present a poor management of secretions with ineffective cough and/or poor control of the airways, especially in bulbar forms of Amyotrophic Lateral Sclerosis (ALS). It is, therefore, very important to correctly evaluate preoperative respiratory function not only through blood gas analysis but, above all, through the study of vital capacity (VC) and cough peak flow (PCF), the study of sleep apnea-hypopnea with sleep polygraphy possibly related to electroencephalography, as well as maximum inspiratory and exhaling pressure (MIP and MEP) [4]. The evaluation and the management of the airways are also not to be underestimated. These patients could be affected by anatomical alterations (progeny, macroglossia) or by poor control of tongue movement and swallowing. This could lead not only to a problem of ventilation/intubation during general anaesthesia but also to acute respiratory failure due to obstructive effect of the tongue or inhalation during procedural sedation. The latter aspect is easy to be efforted in a center specialized in the treatment of neuromuscular diseases in patients who are required to receive procedural sedation, for