Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

TL;DR: The clinical outcome data imply stabilization of neuromuscular deficits over 1 year with mild functional improvement in 44 late-onset GSD2 patients with various stages of disease severity.

TL;DR: These guidelines serve as an educational resource for confirmatory testing and subsequent clinical management of presymptomatic indivduals suspected to have a lysosomal storage disease and help to define a research agenda for longitudinal studies such as the American College of Medical Genetics/National Institutes of Health Newborn Screening Translational Research Network.

TL;DR: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges, and an emerging phenotype is described in a retrospective review of long-term survivors.

TL;DR: A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late‐onset Pompe disease.

TL;DR: This phase I/II first study of recombinant human GAA derived from CHO cells showed that rhGAA is capable of improving cardiac and skeletal muscle functions in infantile GSD-II patients.

TL;DR: It is concluded that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis and 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.

TL;DR: The natural course of cases not fitting the definition of classic infantile Pompe’s disease, a review of 109 reports including 225 cases shows a continuous spectrum of phenotypes, with patients with a later onset of symptoms seemed to have a better prognosis.

TL;DR: The predicted frequency of Glycogen storage disease type II is about two to four times higher than previously suggested, which is a reason to become more familiar with the presentation of GSD II in its different clinical forms and to adjust the risk assessment for genetic counselling.