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 score53), 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.

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

“…In LOPD some patients develop diaphragmatic weakness, and experience sleep disturbances and/or recurrent respiratory tract infections [31] that were also observed in our study.…”

“…There is no clear correlation between severity of limb-girdle and respiratory involvement; one-third of adult patients require ventilator support while they are still able to walk [31] similarly to our cohort of patients (27.2%; 6/22). In LOPD some patients develop diaphragmatic weakness, and experience sleep disturbances and/or recurrent respiratory tract infections [31] that were also observed in our study.…”

Headache: A Presentation of Pompe Disease; A Case Report

“…According to age of onset and clinical presentation two forms of have been categorized: infantile form, with very low if not enzyme activity, presented with severe muscle weakness and cardiomyopathy in the first month of life [2], and late onset Pompe disease (LOPD) may develop at any age from early childhood to adulthood and primarily involves proximal limbs and axial muscles [3,4]. The muscles may seem hypertrophied in spite of significant weakness [5]. The prevalence of Pompe disease has been estimated between 1 in 40,000 to 1 in 600,000 [6].…”

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

“…Muscle atrophy gradually leads to loss of function of the motor system and the respiratory muscles (Pellegrini et al 2005;Gaeta et al 2013). The dynamics of the atrophic process in myopathies is usually assessed on the basis of functional tests.…”

“…The dynamics of the atrophic process in myopathies is usually assessed on the basis of functional tests. In some cases, magnetic resonance imaging allows an approximate evaluation of the relative proportions of the muscle and fatty tissues in the selected segments of the whole body (Pellegrini et al 2005;Gaeta et al 2013;Pichiecchio et al 2004).…”