title: Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease.
abstract: The objective of the present study was to prospectively evaluate relationships linking age, respiratory function and locomotor function in 29 outpatients with late-onset Pompe's disease and to retrospectively determine clinical outcomes. Using univariate regression analysis, vital capacity (VC) was weakly, but significantly, correlated to shoulder motility, Walton score and lower-limb Modified Medical Research Council score. Six patients were able to walk without a walking aid and with only the help of a handrail on the stairs (Walton score=3), although VC was <50%. No parameters were significantly correlated with age. As assessed retrospectively, VC and locomotion deteriorated over time in most patients. In contrast, among the 16 patients started on invasive or noninvasive ventilation with VC monitoring, eight had a VC increase at the first measurement time-point. The absence of correlation with age and the presence, in some patients, of severe respiratory insufficiency without severe limb girdle muscle weakness indicate that respiratory function should be monitored independently from the degree of peripheral muscle weakness. Mechanical ventilation and tracheostomy may improve vital capacity and should, therefore, be taken into account when evaluating treatments for the adult form of Pompe's disease.
authors.affiliation: Intensive Care Unit and Department of Physiology-Functional Testing, Garches Institute, France.
authors.forename: N
authors.initials: N
authors.lastname: Pellegrini
authors.forename: P
authors.initials: P
authors.lastname: Laforet
authors.forename: D
authors.initials: D
authors.lastname: Orlikowski
authors.forename: M
authors.initials: M
authors.lastname: Pellegrini
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: J-C
authors.initials: JC
authors.lastname: Raphael
authors.forename: F
authors.initials: F
authors.lastname: Lofaso
mesh_terms: D017677:Age Distribution; D000368:Aged; D015331:Cohort Studies; D015897:Comorbidity; D018450:Disease Progression; D005121:Extremities; D005260:Female; D005500:Follow-Up Studies; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D015994:Incidence; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000453:epidemiology* / Q000209:etiology / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000453:epidemiology / Q000209:etiology / Q000503:physiopathology; D017286:Polysomnography; D011336:Probability; D011446:Prospective Studies; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000453:epidemiology* / Q000209:etiology / Q000503:physiopathology; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution