Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinal muscular atrophy (SMA) is the first inherited cause of mortality in infants, with four subtypes: SMA0 prenatal onset, SMA1 babies less than 3 months non sitters, SMA2 sitters and SMA3 walkers. Pneumonia and respiratory insufficiency are the most severe complications. Informed parental de cisions are relevant. Respiratory management includes cough assistance, prevention of lung under development due to chest deformity, prompt treatment of respiratory infections, hypoventilation, swallow problems, gastro esophageal reflux and malnutrition. In view of the FDA and EMA approval of the nonsense oligonucleotides nusinersen, the first specific treatment for SMA and the future with gene therapy and others under development, we need to optimize preventive respiratory manage ment with the new standard of care.
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PMID:[Respiratory care in spinal muscular atrophy in the new therapeutic era]. 3072 56

In spinal muscular atrophy (SMA), respiratory muscles are heterogeneously involved with a weakness of the intercostal muscles, possibly of the abdominal wall muscles, and a relatively spared diaphragm, resulting in cough impairment. An abnormal inspiratory cough phase pattern has been reported in SMA II and III. This short communication analyzed the esogastric pressures during voluntary cough in 49 SMA II and III patients. Four different patterns of coughing, reflecting an increasing degree of respiratory muscle weakness, were identified. The "mild weakness" profile was observed mainly in SMA III, while the "severe weakness" profile, which seems to correspond to the absence of abdominal muscle activity, was observed only in a few patients with SMA II. The cough profiles of 6 patients are presented together with their sniff and maximal static pressures measurements. Different esogastric pressure patterns were observed during these forceful maneuvers, suggesting variable involvement of the intercostal and abdominal muscles, and diaphragm during the evolution of SMA II and III.
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PMID:Cough, sniff and maximal static pressure patterns in spinal muscular atrophy. 3156 Oct 13