Cough, sniff and maximal static pressure patterns in spinal muscular atrophy

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 HI.