Symptoms of respiratory involvement are frequently present but overlooked by patients with Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test whether a DM-specifically designed checklist to detect symptoms of respiratory involvement (The Respicheck Questionnaire) could help patients be more aware of their respiratory problems, if any, and help clinicians in identifying potential candidates for intervention. The Respicheck questionnaire was administered to 58 consecutive adult-onset patients with genetically determined DM1 who did not complain of respiratory involvement per history at enrollment. Based on respiratory function test results patients were divided into 3 groups: A, (n = 17) having no signs of respiratory involvement; B (n = 13), patients having borderline results on respiratory assessments and having no need for respiratory intervention; C, (n = 28) patients having respiratory impairment requiring intervention. Respiratory test results and Respicheck scores were analyzed. Respicheck total score and subscales correlated positively with global respiratory impairment. Respicheck appears to be able to discriminate between patients having a higher level of respiratory dysfunction from those having a lower risk of respiratory involvement. This might allow to better target efforts and resources in respiratory management in DM1.
Keywords: Chronic respiratory insufficiency; Myotonic dystrophy type 1; Non-invasive ventilation; Respicheck; Respiratory impairment.
Copyright © 2020. Published by Elsevier B.V.