title: Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients.
abstract: Respiratory failure associated with diaphragmatic weakness is the first cause of death in late-onset type II glycogenosis (LO-GSDII). We aim to identify predictive factors of diaphragmatic weakness and investigate the pathophysiology of respiratory muscles impairment. Pulmonary function and chest wall volumes were measured in ten patients and eight controls (supine and seated). According to the change in forced vital capacity in supine (ΔFVC) we considered patients with (DW, ΔFVC>25%) and without (noDW, ΔFVC<25%) diaphragmatic weakness. Postural change made the supine abdominal contribution to tidal volume (%VAB) of DW to fall and the ribcage to increase and good correlation was found between %VAB and ΔFVC (R=0.776). Patients showed reduced chest wall and abdominal inspiratory capacity (ICCW and ICAB) (p<0.001) and low abdominal expiratory reserve volume (p<0.01). Passing to supine DW did not increase ICCW and ICAB. ΔFVC occurs in LO-GSDII due to weakened diaphragm and abdominal muscles while intercostals are preserved. %VAB represents a new reliable index to detect diaphragmatic weakness.
authors.affiliation: Fonds Erasme pour la Recherche Médicale, Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium. gauthier.remiche@erasme.ulb.ac.be
authors.forename: Gauthier
authors.initials: G
authors.lastname: Remiche
authors.forename: Antonella
authors.initials: A
authors.lastname: Lo Mauro
authors.forename: Paolo
authors.initials: P
authors.lastname: Tarsia
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Francesca
authors.initials: F
authors.lastname: Magri
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Andrea
authors.initials: A
authors.lastname: Aliverti
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: D'Angelo
mesh_terms: D000009:Abdominal Muscles; D000368:Aged; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008168:Lung / Q000473:pathology*; D008176:Lung Volume Measurements; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D010991:Plethysmography; D011187:Posture / Q000502:physiology*; D012129:Respiratory Function Tests; D013147:Spirometry; D035441:Thoracic Wall / Q000503:physiopathology*; D013990:Tidal Volume; D014797:Vital Capacity