TY -的T1 -相对non-ve换气过度ntilated patients with spinal muscular atrophy JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00162-2020 VL - 56 IS - 5 SP - 2000162 AU - Veldhoen, Esther S. AU - Wijngaarde, Camiel A. AU - Verweij-van den Oudenrijn, Laura P. AU - Asselman, Fay-Lynn AU - Wösten-van Asperen, Roelie M. AU - Hulzebos, Erik H.J. AU - van der Ent, Kors AU - Cuppen, Inge AU - Gaytant, Michael A. AU - van Eijk, Ruben P.A. AU - van der Pol, W. Ludo Y1 - 2020/11/01 UR - //www.qdcxjkg.com/content/56/5/2000162.abstract N2 - Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder, characterised by progressive degeneration of spinal cord and bulbar motor neurons. It is caused by survival motor neuron (SMN) protein deficiency, due to homozygous loss of function of the SMN1 gene. Due to the effects of genetic modifiers, SMA displays a broad range in severity. The current clinical classification system distinguishes four types, based on age at onset and acquired motor milestones, i.e. infantile onset without achieving the ability to sit (type 1), childhood onset with the ability to sit but not to walk (type 2), childhood onset with the ability to walk for at least a short period of time (type 3) and adult onset with mild symptoms (type 4) [1, 2]. Disease course is progressive, irrespective of type [3] and patients with SMA type 1, 2 and 3 are at high or moderate risk of developing respiratory insufficiency, which may necessitate initiating mechanical ventilation [4, 5].Lower ranges of carbon dioxide levels are normal in non-ventilated SMA patients. Physicians should be aware of pending respiratory insufficiency if carbon dioxide levels increase to normal levels in patients with pre-existing low carbon dioxide levels https://bit.ly/2Ag7jQ5We thank all patients with spinal muscular atrophy who have been participating in our ongoing study and the Dutch Organisation for Neuromuscular Diseases (Spierziekten Nederland) for their continuing support of our research. We would like to thank K.M.K de Vooght (University Medical Centre Utrecht, Utrecht, The Netherlands), for her contribution to this study. ER -