Brain Advance Access originally published online on January 19, 2005
Brain 2005 128(3):671-677; doi:10.1093/brain/awh384
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Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
1 Department of Metabolic Diseases and Genetics, and 2 Department of Child Neurology, Erasmus MC-Sophia, 3 Department of Neurology, 4 Department of Epidemiology and Biostatistics and 5 Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Correspondence to: A. T. van der Ploeg, MD PhD, Erasmus MC-Sophia, Sp 2435, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands E-mail: a.vanderploeg{at}erasmusmc.nl
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid 
-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 ofDutch 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.
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