Respiratory features of centronuclear myopathy in the Netherlands

Sietse Bouma, Nicolle Cobben, Karlijn Bouman, Michael Gaytant, Ries van de Biggelaar, Jeroen van Doorn, Stacha F.I. Reumers, Nicoline BM Voet, Jonne Doorduin, Corrie E. Erasmus, Erik Jan Kamsteeg, Heinz Jungbluth, Peter Wijkstra, Nicol C. Voermans*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


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.

Original languageEnglish
Pages (from-to)580-588
Number of pages9
JournalNeuromuscular Disorders
Issue number7
Publication statusPublished - 11 Jun 2023


  • BIN1: RYR1
  • Centronuclear myopathy
  • Cohort
  • DNM2
  • MTM1
  • Netherlands
  • Respiratory function


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