Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and succinylcholine, the need for respiratory support, and discussion of advance directives. A thorough and multidisciplinary collaborative approach must be utilized in the care of these patients for the entire perioperative period. This chapter uses a case example of a 17-year-old boy with DMD who presents for preoperative anesthesia consultation in anticipation of percutaneous endoscopic gastrostomy tube placement.
P10‐16: A novel mutation in SEPN 1 gene causing rigid spinal muscular dystrophy presenting as diaphragmatic dysfunction and respiratory failure in adulthood
