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, δFVCAB) 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) (pCW 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.
- Diaphragmatic weakness
- Glycogen Storage Disease Type II (GSDII)
- Postural effects
- Respiratory muscles
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine