Early Recognition of Late-Onset Pompe Disease by Skeletal Muscle Signs and Symptoms

Abstract

clinical spectrum of late-onset Pompe disease (LOPD) have been extensively reviewed, with the identifi cation of a continuum, ranging from severe childhood cases to very late overt manifestations, occurring in the sixth or even seventh decade. Some of these patients may complain of non-specifi c symptoms and signs (hyperCKemia, myalgia, fatigability) for years; therefore they may be misdiagnosed, due to the great number of other neuromuscular conditions presenting with similar patterns. It has been observed that enzyme replacement therapy is mostly effective when the treatment is started at an early stage of the disease, before advanced damage has occurred in muscle fi bres; consequently, the timing of diagnosis has taken on an increasingly important role, both in children and in adults. Although differential diagnosis is challenging, some clues may be helpful to early suspect LOPD at any age, such as history of poor athletic or Early Recognition of Late-Onset Pompe Disease by Skeletal Muscle Signs and Symptoms