摘要
Late-onset Pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients’med ical history and current situation was developed and information was gathered fr om 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 rela ted 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 tim e 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 m ore than two-thirds of the respondents.The age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted 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 s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. 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.
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients'med ical history and current situation was developed and information was gathered fr om 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 rela ted 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 tim e 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 m ore than two-thirds of the respondents.The age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted 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 s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. 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.
出处
《世界核心医学期刊文摘（神经病学分册）》
2005年第8期17-18,共2页
Digest of the World Core Medical Journals:Clinical Neurology
