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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

In this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24). Forced vital capacity (FVC) and maximal inspiratory pressure were decreased in typical NM in comparison with childhood-onset NM with slowness (32.0 [29.0-58.5] vs 81.0 [75.0-87.0]%, p<0.01, and 35.0 [24.0-55.0] vs 81.0 [65.0-102.5] cmH2O, 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.

Original languageEnglish
Pages (from-to)654-663
Number of pages10
JournalNeuromuscular Disorders
Volume32
Issue number8
Early online date22 Jun 2022
DOIs
Publication statusPublished - Aug 2022

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