TY - JOUR T1 - Relative hyperventilation in non-ventilated patients with spinal muscular atrophy JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00162-2020 SP - 2000162 AU - Esther S. Veldhoen AU - Camiel A. Wijngaarde AU - Laura P. Verweij-van den Oudenrijn AU - Fay-Lynn Asselman AU - Roelie M. Wösten-van Asperen AU - Erik H.J. Hulzebos AU - Kors van der Ent AU - Inge Cuppen AU - Michael A. Gaytant AU - Ruben P.A. van Eijk AU - W. Ludo van der Pol Y1 - 2020/01/01 UR - http://erj.ersjournals.com/content/early/2020/05/29/13993003.00162-2020.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 4 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), or 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].FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr. Veldhoen has nothing to disclose.Conflict of interest: Dr. Wijngaarde has nothing to disclose.Conflict of interest: Dr. Verweij-van den Oudenrijn has nothing to disclose.Conflict of interest: Dr. Asselman has nothing to disclose.Conflict of interest: Dr. Wösten-van Asperen has nothing to disclose.Conflict of interest: Dr. Hulzebos has nothing to disclose.Conflict of interest: Dr. van der Ent has nothing to disclose.Conflict of interest: Dr. Cuppen has nothing to disclose.Conflict of interest: Dr. Gaytant has nothing to disclose.Conflict of interest: Dr. van Eijk has nothing to disclose.Conflict of interest: Dr. van der Pol reports grants from Prinses Beatrix Spierfonds, from Stichting Spieren voor Spieren, other from Biogen, other from Avexis, other from Novartis, outside the submitted work; and local PI of industry-sponsored trials (TOPAZ, Scholar Rock and Jewelfish, Roche). ER -