Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Abstract

Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.