Respiratory muscle function in patients with nemaline myopathy

•Respiratory muscle weakness is present in all nemaline myopathy forms.•Respiratory muscle function can be compromised independently of motor performance.•Impaired diaphragm function is a key component in respiratory muscle weakness. In this cross-sectional study, we comprehensively assessed respira...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2022-08, Vol.32 (8), p.654-663
Main Authors: van Kleef, Esmee S.B., van Doorn, Jeroen L.M., Gaytant, Michael A., de Weerd, Willemien, Vosse, Bettine A.H., Wallgren-Pettersson, Carina, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Voermans, Nicol C., Doorduin, Jonne
Format: Article
Language:English
Subjects:
Diaphragm
Nemaline myopathy
Respiratory muscles
Spirometry
Ultrasound
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Summary:•Respiratory muscle weakness is present in all nemaline myopathy forms.•Respiratory muscle function can be compromised independently of motor performance.•Impaired diaphragm function is a key component in respiratory muscle weakness. 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
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2022.06.009