Respiratory features of centronuclear myopathy in the Netherlands.
BIN1: RYR1
Centronuclear myopathy
Cohort
DNM2
MTM1
Netherlands
Respiratory function
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
28
12
2022
revised:
06
06
2023
accepted:
09
06
2023
medline:
16
8
2023
pubmed:
27
6
2023
entrez:
26
6
2023
Statut:
ppublish
Résumé
Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials. Data on respiratory function for other genotypes is limited. To better understand the respiratory properties of the CNM spectrum, we performed a retrospective study in a non-selective Dutch CNM cohort. Respiratory dysfunction was defined as an FVC below 70% of predicted and/or a daytime pCO2 higher than 6 kPa. We collected results of other pulmonary function values (FEV1/FVC ratio) and treatment data from the home mechanical ventilation centres. Sixty-one CNM patients were included. Symptoms of respiratory weakness were reported by 15/47 (32%) patients. Thirty-three individuals (54%) with different genotypes except autosomal dominant (AD)-BIN1-related CNM showed respiratory dysfunction. Spirometry showed decreased FVC, FEV1 & PEF values in all but two patients. Sixteen patients were using HMV (26%), thirteen of them only during night-time. In conclusion, this study provides insight into the prevalence of respiratory symptoms in four genetic forms of CNM in the Netherlands and offers the basis for future natural history studies.
Identifiants
pubmed: 37364426
pii: S0960-8966(23)00151-7
doi: 10.1016/j.nmd.2023.06.003
pii:
doi:
Substances chimiques
Dynamin II
EC 3.6.5.5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
580-588Informations de copyright
Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest N. Voermans was PI of the phase I/II Unite-CNM trial for Dynacure. This has not caused a conflict of interest for this manuscript. None of the other authors reported a conflict of interest. The authors received no financial support for the research, authorship, and/or publication of this article.