INTRODUCTION Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challenging and often significantly delayed, thereby increasing morbidity and early m...

The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axia...

PEARLS Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting with slowly progressive selective lower extremity weakness, specifically of the hip flexors. Hip flexion weakness may be the only finding in the earliest stages of this disease. EMG findings of myotonic discharges occurri...

BACKGROUND Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice qu...

BACKGROUND Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in the differential diagnosis of LV hypertrophy the true frequency of cardiac involvement in adults with Pompe...

BACKGROUND Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. METHODS In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. Thes...

BACKGROUND Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of treatments in orphan diseases and extrapolate effects into the future, alternative models might be needed. The purpose of this study is to develop a conceptual disease model for P...

Ventilatory aspects in adults with Pompe disease have a major impact on clinical course and quality of live. Treatment with non-invasive ventilation is state of the art for these patients. However, it is well known that the onset of ventilatory symptoms does not strictly correlate with the degree of proximal skeletal muscle involvement. Early signs and symptoms indicating ventilatory insuffi ci...

4. Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–7. 5. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe dise...

The introduction of enzyme replacement therapy and the resultant stabilisation or improvement in mobility and respiratory muscle function afforded to patients with late-onset Pompe may lead to an increased number of Pompe patients prepared to accept the challenges of parenthood. In this case report, we describe our anaesthetic management of two patients with Pompe disease for a caesarean section.