Noninvasive Mechanical Ventilation in Rare Diseases

Abstract

A disease that affects less than 200,000 patients is considered a rare disease, while the definition of rare disease in Europe is slightly different in number. Some patients with rare diseases have respiratory problems. Improvements in alternative supportive treatment options have contributed to treat the respiratory problems of patients with rare diseases. Noninvasive ventilation (NIV) is defined as any mode of ventilator support that is delivered with a noninvasive interface which avoids tracheal intubation and may be utilized in various rare diseases that need acute or chronic ventilator support. Clinicians undertaking the care of patients who have a genetic disease with neuromuscular anomalies, obstruction of the upper airway disorders, or central hypoventilation should properly investigate for signs and symptoms of respiratory disorders. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2010, 2016, 2023.