Respiratory muscle function in patients with nemaline myopathy
Esmee S.B. van Kleef, Jeroen L. M. van Doorn, Michael A. Gaytant, Willemien de Weerd, Bettine A.H. Vosse, Carina Wallgren‐Pettersson, Baziel G.M. van Engelen, Coen A. C. Ottenheijm, Nicol C. Voermans, Jonne Doorduin
Abstract
O, p<0.01). Eight patients with childhood-onset NM with slowness had respiratory muscle weakness. There was a low correlation between FVC and Motor Function Measure scores (r=0.48, p<0.01). End-inspiratory diaphragm thickness and twitch mouth pressure were decreased in patients requiring home mechanical ventilation compared to non-ventilated patients with normal lung function (1.8 [1.5-2.4] vs 3.1 [2.0-4.6] mm, p=0.049, and -7.9 [-10.9- -4.0] vs -14.9 [-17.3- -12.6], p=0.04). Our results show that respiratory muscle weakness is present in all NM forms, including childhood-onset NM with slowness, and may be present irrespective of the degree of general motor function impairment. These findings highlight the importance for screening of respiratory function in patients with NM to guide respiratory management.