Respiratory features of centronuclear myopathy in the Netherlands

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... Mehr ...

Verfasser: Bouma, Sietse
Cobben, Nicolle
Bouman, Karlijn
Gaytant, Michael
van de Biggelaar, Ries
van Doorn, Jeroen
Reumers, Stacha F.I.
Voet, Nicoline BM
Doorduin, Jonne
Erasmus, Corrie E.
Kamsteeg, Erik Jan
Jungbluth, Heinz
Wijkstra, Peter
Voermans, Nicol C.
Dokumenttyp: Artikel
Erscheinungsdatum: 2023
Reihe/Periodikum: Bouma , S , Cobben , N , Bouman , K , Gaytant , M , van de Biggelaar , R , van Doorn , J , Reumers , S F I , Voet , N BM , Doorduin , J , Erasmus , C E , Kamsteeg , E J , Jungbluth , H , Wijkstra , P & Voermans , N C 2023 , ' Respiratory features of centronuclear myopathy in the Netherlands ' , Neuromuscular Disorders , vol. 33 , no. 7 , pp. 580-588 . https://doi.org/10.1016/j.nmd.2023.06.003
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27225408
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://pure.eur.nl/en/publications/909ee2dd-12a2-4e14-aa76-84ac3322773d

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.