Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
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.
Hagemans
M L C
ML
Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
Winkel
L P F
LP
Van Doorn
P A
PA
Hop
W J C
WJ
Loonen
M C B
MC
Reuser
A J J
AJ
Van der Ploeg
A T
AT
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005221:Fatigue / Q000209:etiology; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000534:rehabilitation; D006801:Humans; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D010146:Pain / Q000209:etiology; D011379:Prognosis; D012120:Respiration Disorders / Q000209:etiology / Q000628:therapy; D012121:Respiration, Artificial / Q000706:statistics & numerical data; D012656:Self-Help Devices / Q000706:statistics & numerical data