BACKGROUND Pompe disease (acid α-glucosidase deficiency) is one of several lysosomal storage diseases amenable to treatment with enzyme replacement therapy (ERT). While echocardiography (echo) has been the standard method to evaluate the cardiac response to ERT, cardiac magnetic resonance imaging (CMR) has the advantage of a better tissue definition and characterization of myocardial fibrosis. ...

Introduction Late-onset glycogen storage disease type 2 (GSD2) is a genetic but heterogeneous disorder, which may present anywhere along a continuum of severity from an isolated hyperCKemia to a profound, generalized muscle weakness with pulmonary involvement. The gold standard for diagnosis is confirmation of low or absent levels of acid alpha-glucosidase (GAA) enzyme activity (usually in the ...

Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder associated with progressive proximal myopathy, causing a gradual loss of muscular function and respiratory insufficiency. Studies of patients with late-onset Pompe disease have used endpoints such as the 6-minute walking test (6MWT) and forced vital capacity (FVC) to assess muscular and respiratory function du...

INTRODUCTION Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS Objective is to propose consensus-based treatment and management recommendations for late-ons...

OBJECTIVE Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known. In order to evaluate their possible utility for disease monitoring, we assessed the levels of these serum markers in Pompe disease patients receiving enzyme replacem...

OBJECTIVE To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies. METHODS In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital. RESULTS After 2...

The diagnosis of Pompe disease in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates the use of muscle biopsy and other methods for the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagn...

A disease is considered rare when it has a prevalence in the general population below a given threshold, i.e., when few people are affected. The European Union defines this threshold to 0.05% of the population, i.e. 1:2000 inhabitants, and Italy adheres to this definition. The definition “rare”, however, rather than to simply stigmatize the epidemiology of certain diseases, has long labeled dis...