Relative hyperventilation in non-ventilated patients with spinal muscular atrophy
| Autor: | Michael A. Gaytant, Kors van der Ent, W. Ludo van der Pol, Camiel A. Wijngaarde, Laura P. Verweij-van den Oudenrijn, Roelie M. Wösten-van Asperen, Ruben P A van Eijk, Inge Cuppen, Fay-Lynn Asselman, Esther S. Veldhoen, Erik H. J. Hulzebos |
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| Rok vydání: | 2020 |
| Předmět: |
Pulmonary and Respiratory Medicine
medicine.medical_specialty business.industry Conflict of interest Spinal muscular atrophy SMN1 medicine.disease Research Letters Disease course Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine Mild symptoms 030228 respiratory system Nothing Hyperventilation medicine Humans 030212 general & internal medicine medicine.symptom Psychiatry business Agora Production team |
| Zdroj: | The European Respiratory Journal article-version (VoR) Version of Record |
| ISSN: | 1399-3003 0903-1936 |
| Popis: | 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/2Ag7jQ5 |
| Databáze: | OpenAIRE |
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