Treatment of respiratory insufficiency in arthrogryposis multiplex congenita with non-invasive ventilation

Summary 

Arthrogryposis Multiplex Congenita (AMC) consists of multiple joint contractures at birth. Chest wall deformities and respiratory and muscle weakness causing altered chest wall mechanics can lead to respiratory failure, which is often present from birth and is usually fatal in early life. Increasingly, patients are surviving into adulthood. We describe an adult presenting with acute hypercapnic respiratory failure (AHRF) and obstructive sleep apnoea on a background of AMC and obesity who responded to chronic domiciliary non-invasive ventilation.

Keywords: Arthrogryposis, Respiratory, Insufficiency, Non-invasive, Ventilation