Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Title

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Creator

Hagemans ML; Winkel LP; Van Doorn PA; Hop WJ; Loonen MC; Reuser AJ; Van der Ploeg AT

Publisher

Brain

Date

2005

Subject

Child; Humans; Adult; Prognosis; Aged; Middle Aged; Respiration; adolescent; Preschool; 80 and over; Pain/etiology; Q3 Literature Search; Age of Onset; Age Distribution; Artificial/utilization; Fatigue/etiology; Glycogen Storage Disease Type II/complications/diagnosis/rehabilitation; Movement Disorders/etiology; Respiration Disorders/etiology/therapy; Self-Help Devices/utilization

Description

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch patients. The mean age of the participants was 48.6 +/- 15.6 years. The first complaints started at a mean age of 28.1 +/- 14.3 years and were mostly related to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood. Twenty-eight percent of the patients waited >5 years for the final diagnosis after the first visit to a physician for disease-related complaints. At the time of questionnaire completion, 48% of the study population used a wheelchair and 37% used artificial ventilation. Movements such as rising from an armchair, taking stairs or getting upright after bending over were difficult or impossible for more than two-thirds of the respondents. The age at onset, the rate of disease progression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indicated being troubled by fatigue and 46% by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease severity in a large group of Dutch patients. We conclude that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis. The follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.
2005

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

671-677

Volume

128

Citation

Hagemans ML; Winkel LP; Van Doorn PA; Hop WJ; Loonen MC; Reuser AJ; Van der Ploeg AT, “Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients,” Pediatric Palliative Care Library, accessed October 23, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13568.

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