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Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease

¹ Intensive Care Unit and Dept of Physiology-Functional Testing, Garches Institute and Centre for Technological Innovation, Garches, ² Institut de Myologie, Hôpital Pitié-Salpêtrière, and ³ Laboratoire de Génétique, Institut Cochin de Génétique Moléculaire, Paris, and ⁴ Inserm UMR 651, Créteil, France.

CORRESPONDENCE: F. Lofaso, Service de Physiologie-Explorations Fonctionnelles, Hôpital Raymond Poincaré, 92380 Garches, France. Fax: 33 147107943. E-mail: f.lofaso{at}rpc.ap-hop-paris.fr

Keywords: Acid maltase deficiency, -glucosidase, glycogen storage disease type II, neuromuscular disease, Pompe’s disease, pulmonary function

Received: February 21, 2005
Accepted September 13, 2005

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.

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