مورد إلكتروني
Respiratory features of centronuclear myopathy in the Netherlands
| العنوان: | Respiratory features of centronuclear myopathy in the Netherlands |
|---|---|
| المصدر: | 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 . |
| بيانات النشر: | 2023-07 |
| تفاصيل مُضافة: | 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. |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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. |
| مصطلحات الفهرس: | article |
| URL: | |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | application/pdf English |
| أرقام أخرى: | QGQ oai:pure.eur.nl:publications/909ee2dd-12a2-4e14-aa76-84ac3322773d https://pure.eur.nl/en/publications/909ee2dd-12a2-4e14-aa76-84ac3322773d https://doi.org/10.1016/j.nmd.2023.06.003 https://pure.eur.nl/ws/files/97456007/PIIS0960896623001517.pdf 1394344997 |
| المصدر المساهم: | ERASMUS UNIVERSITEIT ROTTERDAM From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1394344997 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |