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Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Brain 2005; 128(Pt 3):671-7B

Abstract

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.

Authors+Show Affiliations

Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15659425

Citation

Hagemans, M L C., et al. "Clinical Manifestation and Natural Course of Late-onset Pompe's Disease in 54 Dutch Patients." Brain : a Journal of Neurology, vol. 128, no. Pt 3, 2005, pp. 671-7.
Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;128(Pt 3):671-7.
Hagemans, M. L., Winkel, L. P., Van Doorn, P. A., Hop, W. J., Loonen, M. C., Reuser, A. J., & Van der Ploeg, A. T. (2005). Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain : a Journal of Neurology, 128(Pt 3), pp. 671-7.
Hagemans ML, et al. Clinical Manifestation and Natural Course of Late-onset Pompe's Disease in 54 Dutch Patients. Brain. 2005;128(Pt 3):671-7. PubMed PMID: 15659425.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. AU - Hagemans,M L C, AU - Winkel,L P F, AU - Van Doorn,P A, AU - Hop,W J C, AU - Loonen,M C B, AU - Reuser,A J J, AU - Van der Ploeg,A T, Y1 - 2005/01/19/ PY - 2005/1/22/pubmed PY - 2005/3/29/medline PY - 2005/1/22/entrez SP - 671 EP - 7 JF - Brain : a journal of neurology JO - Brain VL - 128 IS - Pt 3 N2 - 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. SN - 1460-2156 UR - https://www.unboundmedicine.com/medline/citation/15659425/Clinical_manifestation_and_natural_course_of_late_onset_Pompe's_disease_in_54_Dutch_patients_ L2 - https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awh384 DB - PRIME DP - Unbound Medicine ER -