Late-Onset Pompe Disease: Clinical Semiology and Differential Diagnosis
This review highlights various aspects of late-onset Pompe disease clinical phenotype as a multisystemic hereditary metabolic disorder. It provides an overview of Pompe disease, including molecular genetics, epidemiology, principles of diagnosis and pathogenetic treatment. We emphasize the importance of early diagnosis of this disease, which is the only curable hereditary muscular dystrophy. Differential diagnosis issues of late-onset Pompe disease and neuromuscular disorders with similar clinical phenotypes are considered. Data on enzyme replacement therapy with alglucosidase alpha (Myozyme) are presented.