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

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

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

Brain

2005

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

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

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