Respiratory features of centronuclear myopathy in the Netherlands

TY - JOUR

T1 - Respiratory features of centronuclear myopathy in the Netherlands

AU - Bouma, Sietse

AU - Cobben, Nicolle

AU - Bouman, Karlijn

AU - Gaytant, Michael

AU - van de Biggelaar, Ries

AU - van Doorn, Jeroen

AU - Reumers, Stacha F.I.

AU - Voet, Nicoline BM

AU - Doorduin, Jonne

AU - Erasmus, Corrie E.

AU - Kamsteeg, Erik Jan

AU - Jungbluth, Heinz

AU - Wijkstra, Peter

AU - Voermans, Nicol C.

N1 - Funding Information: We would like to thank all neuromuscular neurologists and clinical geneticists who contributed patients to our study cohort. Furthermore, we thank Spierziekten Nederland for the dissemination of information about this study. We also thank Belinda Cowling from Dynacure inc. for contributing to the discussion on respiratory function in CNM. Several authors of this paper are members of the Netherlands Neuromuscular centre (NL-NMD) and the European Reference Network for rare neuromuscular diseases (EURO[sbnd]NMD). Publisher Copyright: © 2023 The Author(s)

PY - 2023/6/11

Y1 - 2023/6/11

N2 - 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.

AB - 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.

KW - BIN1: RYR1

KW - Centronuclear myopathy

KW - Cohort

KW - DNM2

KW - MTM1

KW - Netherlands

KW - Respiratory function

UR - http://www.scopus.com/inward/record.url?scp=85162949163&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2023.06.003

DO - 10.1016/j.nmd.2023.06.003

M3 - Article

C2 - 37364426

AN - SCOPUS:85162949163

SN - 0960-8966

VL - 33

SP - 580

EP - 588

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 7

ER -